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Nasal obstruction is considered to be one of the risk factors for obstructive sleep apnea, together with a high arched narrow palate, elongated uvula, malocclusion, and tongue and tonsil size. The impact of nasal obstruction on sleep apnea is controversial, however, and its relation to sleep quality is rarely discussed. The purpose of this study was to investigate the independent effect of nasal obstruction on sleep quality.Sixty-nine patients with nasal obstructive symptoms and without sleep apnea episodes were enrolled from September 2018 to August 2019, and compared before and after surgery with thirty-four patients who had benign diseases of the thyroid or parathyroid as a control group, to investigate effects of surgery. Sleep quality was evaluated using the Japanese version of the Pittsburgh Sleep Quality Index (PSQI-J). All cases were reassessed at three months after surgery.The postoperative PSQI scores in the nasal surgery group were significantly lower than the preoperative scores (p 0.001). In contrast, there was no statistically significance difference between the pre- and postoperative PSQI scores in the neck surgery group. Difference of PSQI scores before and after surgery in the nasal surgery group was significantly higher than the neck surgery group.This double-arm study suggests that reduction of nasal disfunction with nasal surgery contributes significantly to sleep quality, in patients who may not have noticed their impaired quality of sleep previously because of their long-term nasal symptoms.

Aims To describe oral manifestations in children born with microcephaly attributed to congenital Zika virus syndrome (CZS). Methods Data was collected in semiannual intervals from 2017 to 2019, by oral exams of the children and interview with caregivers at a Public Dental Center in Rio de Janeiro, Brazil. A single calibrated examiner performed clinical examinations. Results Of 38 eligible children, 34 were followed-up from 12 to 30 months of age, 20 boys and 14 girls. The mean age of emergence of their first primary tooth was 12.4 months (SD = 2.9). By 30 months of age only 14.7% (n = 5) had complete primary dentition. Alteration in the sequence of tooth emergence was observed in 41.1% (n = 14). Radiographic examination demonstrated dental agenesis (14.7% n = 5). Dental developmental alterations (38.2%, n = 13), enamel defects (14.7%, n = 5), eruption cysts/hematoma (23.5%, n = 8), gingival bleeding (55.8%, n = 19), narrow palate, and bruxism (64.7%, n = 22) were also observed. No child had dental caries. Conclusion Children with microcephaly attributed to CZS presented oral manifestations early in life.

Loeys-Dietz Syndrome (LDS) is a rare connective tissue disorder with an autosomal dominant pattern of inheritance, linked to heterozygous mutations in six genes from the transforming growth factor beta receptor complex. The classical syndrome characteristics include aortic aneurisms with generalized arterial tortuosity, hypertelorism and cleft palate or bifid/broad uvula. LDS is also associated with a wide range of skeletal, craniofacial, cutaneous and ocular abnormalities, as well as allergic, atopic and inflammatory diseases. Common oral findings include high arched and/or narrow palate, enamel defects and class II skeletal malocclusion. Dental management of patients with LDS is complex and includes approaches to prevent medical complications, as well as considerations for safe delivery of dental care. The purpose of this report, reviews the literature related to LDS oral manifestations as well as to describe the comprehensive dental management of an adolescent patient with LDS and discuss the challenges that dental practitioners may face when providing treatment for these patients. LDS is a newly described syndrome and the literature reviewing its oral manifestations is limited. Patients are reported to have lower oral health-related quality of life as a result of tooth sensitivity and malocclusions. Dental management is compounded by the complexity of medical factors that should be taken into consideration for the safe delivery of care. The presented case is an example of the challenges that dental practitioners may face when providing treatment for LDS patients.

OBJECTIVES To relate the oral health of individuals with fragile X syndrome (FXS) with their oral characteristics, habits, and difficulties in terms of oral hygiene and the perception of oral health of the guardians. METHODS AND RESULTS This observational transversal study included 31 volunteers who belong to the Portuguese Fragile X Syndrome Association. A questionnaire was presented to guardians, and a head and neck and oral examination was performed to the individuals: decay, missing and filled teeth index (DMFT) = 4.65, gingival index (GI) = 1.01, and simplified oral hygiene index (OHI-S) = 2.26 and Malocclusion Class Angle II (61.3%) with dental aesthetic index 34.90. A high-arch narrow palate (71%), accentuated gagging reflex (45.2%), and bruxism (22.6%) were the most common oral characteristics. There was a negative correlation between the several behaviors, attitudes, and habits reported by the guardians and all the indexes of oral health, with significance to the DMFT (P = .032), missing teeth (P = .032), and GI (P = .04). CONCLUSION There was a variability in oral characteristics, and these can represent a difficulty in performing oral hygiene. The collected data provide information for the health professionals and guardians to guide the monitoring of patients with FXS as well as to create strategies to improve oral hygiene.

Hard palate is regarded as an important part of the human skull, which contributes to the separation of the oral and nasal cavities. The aims of the study were to investigate the morphology of the hard palate in order to create a general guideline of three-dimensional values of the palate in a Kurdish sample in the city of Sulaimani as well as determining the possible correlations between different palatal parameters in class I malocclusion with the maxillary arch form and perimeter. A retrospective study design was adopted by collecting 100 study models of orthodontic patients aged 16–24 years old attending different private dental clinics in the city of Sulaimani seeking orthodontic management. In this study, three-dimensional palatal measurements including depth, length, and width were measured in an attempt to discover their correlation with each maxillary arch form and perimeter. Additionally, measurements of inter-molar width, inter-canine width, and arch perimeter were carried out. About two-thirds of those seeking orthodontic treatment were females. Nearly 80% of the study sample had narrow palate followed by 15 and 5% of intermediate palate and broad palate, respectively. In regard to arch form, almost 90% of subjects were with tapered maxillary arch form and 10% of them with oval arch form. Males had increased dimensions compared to females, with significant differences, except in palatal depth in the molar area, and palatine height index, in which females showed increased dimensions than males but the differences were statistically non-significant. A strong positive correlation was observed between arch form and canine depth. In regard to arch perimeter, a strong negative correlation was found with molar depth and a medium positive correlation with each of canine depth, palatal width, and palatal length.

Treacher Collins Syndrome (TCS) is an autosomal dominant disorder that leads to congenital craniofacial malformation, and may then be assisted by the Padovan Method® for neurological rehabilitation. That being said, the aim of this article is to report the functional improvements obtained by a patient with TCS who underwent the Padovan Method®. The child was born on november 26th of 2014, cesarean delivery, 37 weeks, Apgar 9/10, weighted 3625g, PC = 35cm, C = 49CM, presenting mild respiratory discomfort, absence of suction and the presence of syndromic facies, which is characteristic of TCS with retrognathism, oblique palpebral cleft downward divergent strabismus on left, pointed ears with cleft lobes, narrow auditory canal, malar hypoplasia and narrow palate. Padovan therapy was initiated at the 6th day of life, from orofacial, vestibular, ocular and motor exercises that seek to recapitulate the neuroevolutionary phases of human development with the purpose of propitiating a motor and neurological maturation of the central nervous system (CNS) and the correction of its possible failures. The child presented suction on the second day of therapy and on the fifth day was discharged from the hospital with good suction to the breast. The patient was followed up on an outpatient office and was given physiotherapy and speech therapy. The patient no longer received the Padovan Method® because at that time it was not available outside the hospital. Upon returning to childcare at age of 3, a good motor coordination performance was noticed, also speaking few loose words, but with good interaction and understanding. Therefore, due to the lack of standard behavior in neonatal neurological rehabilitation, considering the concepts of neuroplasticity andknowing the importance of early intervention, the Padovan Method® is shown as an alternative in the CNS reorganization in patients with TCS.

Background The aim of this study was to assess the difference of palatal morphology in different vertical patterns between skeletal Class I subjects and skeletal Class II subjects with retrusive mandible. Methods Seventy-six skeletal Class II subjects with retrusive mandible (38 females, 38 males) and 85 skeletal Class I subjects (45 females, 40 males) were collected retrospectively and divided into hyperdivergent, normodivergent and hypodivergent groups. CBCT images of these subjects were reoriented by Dolphin 3D Imaging software. Three-dimensional (3D) maxilla was segmented by ProPlan software before using Geomagic Studio software to reconstruct 3D palatal morphology. Deviation patterns on 3D colored map analysis was performed to compare the difference of 3D palatal morphology between different groups. Results 3D colored map analysis showed that male’s palate was higher and wider than that of female in the posterior part, regardless of different sagittal and vertical patterns. In skeletal Class II subjects with retrusive mandible, males with hyperdivergent and normodivergent showed higher and narrower in the posterior part of palate, while females with hyperdivergent and normodivergent had a higher but no obviously narrow palate compared with the hypodivergent subjects. Skeletal Class II subjects with retrusive mandible showed flatter and narrower in the posterior part of palate than that of skeletal Class I subjects. Conclusions Sagittal and vertical patterns have great influence on the palatal morphology and as the vertical dimension increased, the palate tended to be higher and narrower.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly characterized by abdominal distension, distended non-obstructive urinary bladder, microcolon, and intestinal hypoperistalsis. Although facial manifestations have been reported, oral findings in MMIHS patients have never been described. Here, we report the case of a 4-year 10-month-old girl with MMIHS who visited our clinic for delayed tooth eruption. Oral examination revealed that she had a high and narrow palate, gingival hyperplasia, impacted teeth, and delayed eruption. X-ray images showed no congenital lack of primary and permanent teeth. This is the first report of oral findings of an MMIHS patient.

Myotonic dystrophy, or Steinert’s disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system. The weakness of the facial muscles causes a characteristic facial appearance frequently associated with malocclusions. Young people with myotonic dystrophy, who also have severe malocclusions, have bad oral functions such as chewing, breathing, and phonation. We present a case report of a 15-year-old boy with anterior open bite, upper and lower dental crowding, bilateral crossbite, and constriction of the upper jaw with a high and narrow palate. The patient’s need was to improve his quality of life. Because of the severity of skeletal malocclusion, it was necessary to schedule a combined orthodontic and surgical therapy in order to achieve the highest aesthetic and functional result. Although therapy caused an improvement in patient’s quality of life, the clinical management of the case was hard. The article shows a balance between costs and benefits of a therapy that challenges the nature of the main problem of the patient, and it is useful to identify the most appropriate course of treatment for similar cases.

Summary Introduction Polysomnographic recordings of children with an apparent life-threatening event (ALTE) have often displayed signs of partial or complete obstruction during sleep. Various studies have focused on facial dysmorphia in infants with ALTE and tried to establish a correlation between ALTE and obstructive sleep apnoea. Our study evaluates the phenotypic characteristics and the presence of sleep disorders in pre-school children who had at least one ALTE in the first year of life. Materials and Methods We analyzed a group of pre-school children (mean age 5.21 ± 0.90 years) who were referred for an ALTE between 2008 and 2010. Children with no history of ALTEs were recruited as a control group. A detailed personal and family history was obtained for all the participants. Moreover, all the children underwent a general clinical examination and an ear, nose, and throat and orthodontic assessment. A clinical score was calculated according to the previously validated Sleep Clinical Record (SCR). Results In the ALTE group (n = 107), snoring (25.2% vs. 6.1%), apnoeas (19.6% vs. 4.3%), restless sleep (31.7% vs. 6.1%), and habitual mouth breathing (35.5% vs. 12.2%, P

Objective Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design To highlight the specific dental and maxillofacial characteristics of ectrodactylyectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were taken; systemic complications were recorded at the first visit to our dental hospital. Results All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

A complete history, head and neck physical examination, and upper airway flexible endoscopy are mandatory in the clinical approach to any patient with OSA being considered for robotic surgery. The initial office encounter will provide crucial information including patient expectations, polysomnography results, subjective measures of daytime fatigue and swallowing function, as well as anatomic characteristics such as lymphoid tissue hypertrophy, muscular tongue hypertrophy, elongated or narrow palate, and nasal obstruction. This data is integrated and provides both the patient and surgeon confidence in deciding to offer TORS multilevel surgery or, alternatively, to suggest alternative treatments both operative and nonoperative.

PURPOSE: To investigate the myofunctional characteristics of nasal and oral breathing in obese individuals. METHODS: Participants were 24 obese individuals with ages between 8 and 15 years, who participated in the Obesity Group of the Ambulatory of Pediatrics of an University Hospital, and were selected by convenience. The myofunctional characteristics were assessed using the Orofacial Myofunctional Assessment with Scales (Avaliacao Miofuncional Orofacial com Escalas - AMIOFE) protocol. RESULTS: Oral breathing was present in 62.5%, and nasal breathing in 37.5% of the population studied. In the oral breathing group, 40% of the subjects presented lips tension during occlusion and 80% showed a narrow palate, while almost all nasal breathers had normal palate and lips posture (p

We report a one year old male patient with slight upward slanting palpebral fissures, hypotelorism, bulbous nose, high arched narrow palate, low set ears, bilateral partial simian creases, short neck with loose skin over it, thick ridge over the metopic suture giving a trigonocephaly, brachycephaly shape to the skull, hypoplastic scrotum and bilateral undescended testes, and mild generalised hypotonia. Although most of the reported cases suffered from severe mental retardation, our patient had mild mental retardation. CT of the brain demonstrated Dandy walker variant and trigonocephaly. To our knowledge this anomaly was reported once before with Opitz trigonocephaly C syndrome (OTCS). We consider our patient as a mild form of OTCS and he needs close follow up because over time there may be a developmental delay, severe mental retardation and seizures.

Introduction The recent interest in sleep-related breathing disorders has re-opened the old debate as to whether there is a causal relationship between upper respiratory obstruction and abnormalities in dentofacial development. Objective To establish the impact of dentofacial development on sleep-related breathing disorders in children. Method This is a prospective study in which the dentofacial studies of 30 children, diagnosed with a sleep-related breathing disorder using polysomnography, were compared with a control group of 30 healthy children. The ages of both groups were between 3 and 13 years. Results The statistical analysis showed significant differences between the groups in the proportion of children with a narrow palate (83% of the problem group and 57% in the control; P = .024) and cross bite (40% and 13%; P = .020). On comparing the angles measured, the only statistically-significant difference was the skull base-mandibular plane angle: The problem children group had a mean of 37.59 ± 5.56 and the control group, a mean of 34.41 ± 4.62 (P = .023). Conclusion Children with sleep-related breathing disorders have abnormalities in facial and dental development caused by upper respiratory obstruction. These anomalies, vertical growth of the face, narrow palate and dental occlusion changes should be taken into account when assessing the indication for a adenotonsillectomy.

Purpose The purpose of this study was to develop design criteria for palatal straps according to palatal shape. Methods The palatal shapes of 60 dentate maxillary stone casts were measured using a contact-type three-dimensional measuring instrument. Based on the average of the 60 palatal shapes, 5 three-dimensional finite element models (FE models) were constructed: a basic FE model, a wide palatal FE model, a narrow palatal FE model, a deep palatal FE model and a shallow palatal FE model. The FE models were simulated unilateral free-end saddle dentures with the maxillary left second premolar and first and second molars missing. The FE models included a denture base, two rests and a palatal strap. The mechanical properties of Co–Cr alloy, Ti–6Al–7Nb alloy and type IV gold alloy were given to the FE models. A vertical load of 50N was loaded onto the occlusal surface of the left first molar. Vertical displacement of the distal edge of the denture base was then compared between models. Results Compared to the basic FE model, displacement in the wide FE palatal model and shallow palatal FE model was larger, and displacement in the narrow palatal FE model was smaller. The difference in displacement between the deep palatal FE model and basic FE model was small. Conclusions With a wide and shallow palate, it is necessary to design a reinforced palatal strap. With a narrow palate, the anteroposterior width of the palatal strap can be narrower. With a deep palate, it is not necessary to change the palatal strap design according to the palatal shape.

We report on a sister and two brothers born to healthy Iranian parents with mild intellectual disability, progressive muscle weakness, and characteristic facies. including highly arched eyebrows, down-slanting palpebral fissures, prominent nasal bridge, prominent nose, columella extending below alae nasi, narrow mouth, narrow palate, and dental caries, and in one of them an inability to abduct the left eye. Electrophysiological studies showed signs of myopathy, and muscle biopsies demonstrated only nonspecific signs. Brain MRIs in two of the sibs showed leukencephalopathy with delayed myelination, frontal and parietal hyperintensities, and hippocampal atrophy in one. We have been unable to find a description of this association of features in literature. Based on the occurrence in siblings, no significant difference in phenotype between the brothers and sister, absence of manifestations in parents, and a likely consanguinity between parents we performed a homozygosity mapping. A single identical-by-descent bloc encompassing 57 genes located at 3p24.3-p25.3 was found to segregate within the family with this phenotype. © 2015 Wiley Periodicals, Inc.

A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested.

Trisomy 18 is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, micrognathia, microcephaly, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and congenital heart defects. The prognosis is poor: 90% of infants with trisomy 18 do not survive beyond the first year of life and 99% die before the age of 10. This paper reports on a 13-year-old child diagnosed with trisomy 18. The major clinical features are cleft lip/palate, high-arched narrow palate, micrognathia, anterior open bite, posterior crossbite and taurodontism. Dental care management of these patients with special needs is discussed and the dental treatment for this child with trisomy 18 is described.

Turner syndrome is caused by complete or partial absence of one X chromosome. These patients usually have a delay in growth and altered body proportions, causing sexual infantilism, short stature, delayed bone maturation, and variations in craniofacial morphology, among other systemic complications. The skeletal features associated with this syndrome include maxillary growth reduction with midface hypoplasia; mandibular micrognathia; high, narrow palate; V-shaped maxillary arch; and open bite. This case report shows a two-phase orthodontic treatment in a patient with Turner syndrome with a Class II malocclusion and severe deep bite, which is an unusual feature in patients with this disease. A conventional orthodontic treatment was performed, and after 20 months in retention the patient remains stable.

In individuals with Down syndrome, hypotonicity of the tongue and an underdeveloped maxilla may lead to poor oral motor coordination, which adversely affects the oral phase of swallowing. This study aimed to evaluate the characteristics of pressure produced by the tongue against the hard palate during swallowing in individuals with Down syndrome. In addition, the relationship between tongue pressure and palatal morphology was examined. We studied nine adults with Down syndrome and ten healthy adults as controls. Tongue pressure while swallowing 5 mL water was recorded by a sensor sheet system with five measuring points attached to the hard palate. Palatal length, depth, width, curvature, and slope were measured by three-dimensional digital maxillary imaging. The order of onset of tongue pressure on the median line of the hard palate was the same in all participants, except for three with Down syndrome. The duration and maximal magnitude of tongue pressure on the median line in nine participants with Down syndrome were significantly shorter and lower than those of controls. In participants with Down syndrome, significant positive correlations were observed between the duration of tongue pressure at the mid-median part of the hard palate and palatal depth and width, and between the duration and maximal magnitude of tongue pressure at the posterior-median part and palatal length. These findings suggest that impaired tongue activity, poor tongue control, and constrained tongue motion due to a short and narrow palate contribute to swallowing difficulty in individuals with Down syndrome.

We report on a girl with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 7q22-->q31.3 duplication. Comparison with other reported cases shows some resemblance but insufficient to enable us to establish a definite syndrome with specific clinical manifestations. The importance in better analyzing further cases by new molecular cytogenetics techniques is raised.

The frequency of associated cleft palate is known to be high in some fibroblast growth factor receptor 2 (FGFR2)-mediated craniosynostosis syndromes, such as Apert syndrome. However, there is little information on the frequency of palatal clefts in the FGFR2-mediated disorder, that is, Pfeiffer syndrome. The purpose of this study was to determine the frequency of palatal clefts in patients with Pfeiffer syndrome. The records of patients with Pfeiffer syndrome managed in our craniofacial unit were reviewed. Only patients with a confirmed diagnosis of Pfeiffer syndrome were included. Diagnostic criteria were as follows: characteristic mutations in FGFR1 or FGFR2 or, in the absence of genetic testing, clinical findings consistent with Pfeiffer syndrome as determined by a clinical geneticist or our most experienced surgeon (J.B.M.). Only 2 clefts were noted in 25 patients (8%), including 1 with a submucous cleft and 1 with an overt palatal cleft. Many patients (87%) were described as having a high-arched and narrow palate, and 1 had a low, broad palate. Nine patients were noted to have choanal atresia or stenosis. Clefting of the palate does occur in Pfeiffer syndrome but at a low frequency.

A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks’ gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (−3 SDS) and head circumference 52.5 cm (⩽2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes …

We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12--q21.3). This abnormality was suggested by G- and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication.

Chronic snoring is considered abnormal in a pediatric population. This disorder is often attributed to enlarged tonsils and adenoids, but multiple anatomic obstructions should also be considered. Facial and dental morphometry associations with various sleep-disordered breathing symptoms were investigated at an orthodontic clinic.Parents or guardians were asked to complete a 4-part questionnaire on behalf of their children (n = 604;18 years of age), including medical and dental history, bruxism and temporomandibular disorder habits, sleep and daytime behavior, and sleep duration and quality. All subjects underwent a clinical screening assessment by the same orthodontist to identify standard dental, skeletal, functional, and esthetic factors.In contrast to sleep-disordered breathing or sleep apnea in adults, which is predominantly associated with obesity, sleep-disordered breathing symptoms in this pediatric cohort were primarily associated with adenotonsillar hypertrophy, morphologic features related to a long and narrow face (dolichofacial, high mandibular plane angle, narrow palate, and severe crowding in the maxilla and the mandible), allergies, frequent colds, and habitual mouth breathing.Because of the recognized impact of pediatric snoring on children's health, the determination of these good predictors can help in preventing and managing sleep-disordered breathing. If a health professional notices signs and symptoms of sleep-disordered breathing, the young patient should be referred to a sleep medicine specialist in conjunction with an orthodontist if there are dentoskeletal abnormalities.

The patient was a 9-year-old boy. He began to walk at the age 1 year and 8 months and began to speak at the age of 2 years, suggesting retarded mental and motor development. A diagnosis of DMD was made when he was 7 years old. On admission, the patient exhibited a peculiar thin and long face, large auricles, narrow palate, malalignment of the teeth, epicanthus, saddle nose, and simian lines in addition to symptoms consistent with DMD. Chromosome analysis showed fragile X at Xq27 at a frequency of 20%. His mother also showed fragile X at the same position. Since the atypical features of this DMD patient are all explained as fragile X syndrome, this case was considered to be a very rare instance of DMD whose clinical pictures were modified by fragile X syndrome.

This study was designed to examine postoperatively morphological characteristics of the palate of children with cleft palate with palatalized articulation. Palate morphology was measured in children with good velopharyngeal closure function after surgery, who were classified in Hellman's Dental Age II A group with unilateral cleft lip and palate, and the groups of children with palatalized articulation (CP-P) and normal articulation (CP-N) were compared. The results showed that the group of children with palatalized articulation was characterized by small palatal volume. In particular, there was narrowing and shortening of the anterior palate, and the palate was shallow. It was surmised that morphology may be one cause of palatalized articulation. Accordingly, it is important that early tongue-clicking movements are encouraged in patients exhibiting narrow palate morphology.

Sotos syndrome is an overgrowth syndrome leading to peculiar facial characteristics, large hands and feet, and mental retardation. The maxillofacial characteristics are metopic protrusion, a high and narrow palate and a tapered mandible. In this study, we evaluated changes in maxillofacial growth in 2 patients with cerebral gigantism during the peripubertal period. Patient 1 was a boy aged 8 years at the first examination. The face showed midface retraction and a tapered mandible. Maxillary median diastema with an OJ of 2.5 mm and OB of 1.0 mm was observed, and the molar region showed mandibular mesial occlusion. Radiography revealed a lack of 15, 25, 37, 47, 14, 24, 34 and 44. Cephalometrics demonstrated maxillary and mandibular retrusion with an SNA of 68 degrees and an SNB of 70 degrees , and the patient had leptoprosopia with a mandibular plane of 38.0 degrees . This plane was 45 degrees at the time of re-examination when the patient was 14 years old, showing an increase in the lower facial height and decreases in facial axis and depth. Patient 2 was a boy aged 14 years at the first examination. The face showed mandibular retrusion and tapering. The occlusion was angle class II div. 1, OJ 14 mm, and OB -1 mm. Cephalometrics demonstrated maxillary and mandibular retrusion with an SNA of 74.5 degrees and an SNB of 69.5 degrees , and the patient had leptoprosopia with a mandibular plane of 37.0 degrees . At the time of re-examination, when the patient was 16 years old, the mandibular plane was 42.5 degrees , showing an increase in lower facial height and decreases in facial axis and depth. In this syndrome, excessive facial height without mandibular forward overgrowth is observed. Since the facial height tended to increase by growth during the peripubertal period, maxillofacial vertical growth is considered important in the treatment of this syndrome.

An inventory of the mammals of Camiguin Island conducted in 1994 and 1995 documented the presence of a previously unknown species of Philippine forest mouse of the endemic Philippine genus Apomys, which is here named and described. Based on molecular data, the new species is most closely related to two species (A. hylocoetes and A. insignis) from Mindanao Island and to an unnamed species from Leyte, Biliran, and Bohol islands. The new species is diagnosed in comparison to its three closest relatives on the basis of slightly browner and less russet fur, slightly greater size overall, a moderately long and broad hind foot with small plantar pads, large tail scales, slightly narrower zygomatic width and mastoid breadth, deep rostrum of moderate length, a long orbit and braincase, narrow palate, large incisive foramina, short distance from the posterior edge of the incisive foramina to the anterior edge of the first upper molar, bony palate that extends well to the posterior of the posterior edge of ...

Report on a patient with Opitz-Trigonocephaly-Syndrome who was diagnosed at the age of ten months. He had a trigonocephaly and multiple other stigmata including oblique orbital fissures, internal strabism, high and narrow palate with broad alveolar ridges, microstomia, large dysplastic ears, nuchal cutis laxa, broad clumsy fingers. Additionally he had a ventricular septal defect, was dystrophic and developmentally retarded. Chromosomal analysis was normal. A sister that was recently born showed no dysmorphic signs. So far, 24 cases have been reported in the literature. This is the 5th patient in Germany.

We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.

Cerebro-Oculo-Nasal syndrome, a new multiple congenital anomaly/mental retardation syndrome was first reported by Richieri-Costa and Guion-Almeida in 1993 (Am J Med Genet 47:702-706) in two patients. To the best of our knowledge four additional cases have been reported. The main features of the syndrome are anophthalmia/microphthalmia, abnormal nares, and central nervous system anomalies. In this report, an additional sporadic case of this syndrome is presented. A 6-year-old girl from a non-consanguineous couple with normal prenatal growth parameters and retarded postnatal growth had anophthalmia, uplifted right nares with skin tag, and slight clefting at the tip of the nose, upper lip and gingiva. She also had a high-arched narrow palate, slightly low set ears, hypertelorism, a CNS defect and mental retardation. Additional findings were hypoplastic teeth with dental malocclusion, muscular hypotonia and midline hyperpigmentation over the anterior neck and the abdomen. (C) Chapman & Hall Ltd.

Persons with Down Syndrome (DS) have, in addition to intellectual deficits, specific dysmorphic facial features. These include small, simply formed ears with overlapping helices, upward slant of palpebral fissures, epicanthal folds, small nose with depressed nasal bridge, mid-face hypoplasia, and a small oral cavity with broadened alveolar ridges and narrow palate (Pueschel, 1982). Such distinguishing physical characteristics, it is believed, make the person with Down Syndrome appear markedly different from others, even physically unattractive to some. There is concern (Olbrisch, 1982) lest the characteristic facial features of persons with DS impede their social integration. This concern suggests an implicit model which assumes that physical appearance mediates others’ perceptions of an individual and that these, in turn, influence others’ acceptance of and consequent behavior toward the individual. Proponents of this view also assume that physical appearance mediates the individual’s self-perception, which, in turn, influences self-acceptance and consequent behavior toward others.

Maxillary transversal deficiency is characterized by unilateral or bilateral posterior cross-bite, crammed and rotated teeth, and narrow palate, and its treatment is surgically assisted maxillary expansion for adult patients. This procedure affects not only bones, but also the teeth (especially the post of the expander device), nasal cavity and air space, lips and surrounding soft tissues. The aim of the present study was to evaluate dento-skeletal alterations of patients presenting atrophic maxilla who underwent surgically assisted maxillary expansion using cone beam computed tomography (CBCT). For this, 14 patients underwent CBCT before and after (15, 60 and 180 post-operative days) surgically assisted maxillary expansion by subtotal Le Fort I osteotomy, and the thickness of buccal and palatal cortical bones and the angulation of the long axis of the upper posterior teeth (1 M, 2 M, 1 PM and 2 PM) were measured. Data were statistically analyzed. Results showed changes in thickness of buccal and palatal cortical areas analyzed, which allowed us to conclude that EMCA, even though using surgical techniques, teeth can be translated by displacement and buccal inclination. Furthermore, it was concluded that when the shift occurred and buccal tooth inclination, these seem to have been accompanied by buccal cortical bone resorption and bone formation in the cortical palate.

Oral findings in 45 patients with Rubinstein-Taybi syndrome living in The Netherlands are compared with those from the literature. The main non-dental findings were thin upper lip, small oral opening, pouting lower lip, retro/micrognathia, and apparently higher arched, narrow palate. Cleft uvula, cleft palate, or, rarely, cleft upper lip can be part of the syndrome. Timing of the eruption of deciduous and permanent dentition is normal. Sixty-two percent of patients have malpositioned, crowded teeth. Marked caries was found in 36% and was possibly caused by problems in dental care due to the small opening of the mouth, malposition and malformation of the teeth, and non-cooperation of the patients. Hypodontia, hyperdontia, and natal teeth can be manifestations of the syndrome. In 73% of all patients and in 92% of all permanent dentitions, talon cusps were found. Two or more talon cusps are rarely found in the normal population or other syndromes. Therefore, this finding strongly supports the diagnosis of Rubinstein-Taybi syndrome in patients in whom this diagnosis is suspected.

In 1991, Winship et al 1 described South African sibs, one male child aged 5 years and one female child aged 12 months, with a combination of microcephaly, dilated cardiomyopathy, and minor dysmorphic features. The cardiomyopathy had resolved in the older child by the age of 3 years, and had markedly improved in the younger child on treatment for associated cardiac failure. The microcephaly was severe, and both children showed severe global developmental delay. The dysmorphic features were described as cupping of the outer helix of both pinnae, fifth finger clinodactyly, and sandal gaps on both feet. The older sib had fine pigmentary stippling at the posterior poles and macula of the fundus on ophthalmological examination. Kennedy et al 2 reported on a 9 year old girl with microcephaly, severe developmental delay, and a dilated cardiomyopathy which had resolved at 7 years of age. She had had seizures in the immediate neonatal period, but not subsequently. This patient had a sloping forehead, downward slanting palpebral fissures, a narrow palate, small ears, and a big sandal gap. Magnetic resonance imaging of the brain was normal. All three children initially presented with cardiac failure, at the ages of 2 months, 5 months, and neonatally respectively. There was no consanguinity in either family. We describe another patient with microcephaly and a dilated cardiomyopathy, secondary hyperthyroidism, minor brain abnormalities, and cup shaped ears, but without any other soft dysmorphic features. No retinal changes or seizures occurred in our patient. Consanguinity in our family would support autosomal recessive inheritance. The male patient was the second child of first cousin parents originating from Pakistan; there were no concerns about his older sib, and there was no other relevant family history. He …

INTRODUCTION Since the first description of ring chromosome 8 [r(8)] in 1973, only a few patients have been reported. In this report we present a child with this anomaly, and we compare his clinical manifestations with previously reported patients. CLINICAL CASE A 12 year-old boy presented with low birth weight, mental retardation, microcephaly, short stature, hypotonia, and minor facial anomalies: hypotelorism, bilateral epicanthic folds, long philtrum, thin lips, narrow palate, micrognathia and low-set ears. Digital anomalies were bilateral brachyclinodactily of the fifth finger, and cutaneous syndactyly between second and third fingers. The boy had a pleasant personality but exhibit attachment for people and things with unrestricted affect. Cytogenetic analysis on peripheral white blood cells showed a r(8) chromosome. Parental karyotypes were both normal. CONCLUSIONS The major features in the boy studied by us were found also in the other cases reported with an r(8) chromosome, but all they were non-specific features, and do not support the existence of a readily recognizable r(8) chromosome syndrome . Follow-up data with special emphasis on the behavioral characteristics are needed for defining an specific behavioral phenotype.

A 28 year old man with mental retardation and therapeutically controlled schizophrenia was found to have a de novo interstitial deletion in the long arm of a chromosome 9 (46,XY,del(9)(q32q34.1). Additional phenotypic abnormalities included short stature, a short webbed neck with a low posterior hairline, dysmorphic facies, a narrow palate with an inverted V soft palate, and tapered fingers with bilateral short fifth metacarpals. Interstitial deletion of chromosome 9 is a rare finding and we are aware of only one other case involving the q32q34.1 region.

A Japanese male infant with the neonatal progeroid syndrome is described, bringing to six the number of patients reported with the syndrome. He had clinical features typical of the syndrome, and in addition, several abnormalities not described previously. The latter included blepharophimosis, downward slanting of the palpebral fissures, long eyelashes, narrow palate, generalized articular contractures, camptodactyly of the 2nd through 4th fingers, and the right second toe overriding the great toe.

A newborn female is described who exhibited a characteristic facial dysmorphology including deep-set eyes, broad nasal bridge, small mouth, high-arched and narrow palate, severly receding mandible and misshapen ears; constant flexion of the proximal interphalangeal joints, and short distal phalanges and nails of fingers; a congenital heart defect; marked muscular hypotonia, motor and growth retardation. She died at 4 months of age. Her karyotype revealed an additional band in 1q. Banding patterns and clinical picture suggest duplication of the segment 1q25 leads to 1q32.

A case of Crouzon's disease in a 20-year-old white female patient is reported. The oral findings in this case were an underdeveloped maxilla with primary emphasis on poor development of the premaxilla, a high and narrow palate, uvula bifida, unerupted teeth, faulty occlusion, hyperplastic gingiva, and everted lips.

Comparisons of measurements of palatal forms of adults with Down's syndrome with those of normal adults suggest that “high arched” or narrow palate is not characteristic of the syndrome. In addition, the palates of affected adults appear to be appreciably smaller in all dimensions than those of normal adults.

1. 1. Eighty-four (39 per cent) of the 214 preschool children in this study had a tongue-thrust pattern for saliva swallowing; 117 (55 per cent) for liquid swallowing; and 146 (68 per cent) for swallowing solids, according to the conservative definition of tongue-thrust. 2. 2. One hundred sixty-four (77 per cent) had a thrust for saliva swallowing; 181 (85 per cent) for liquid swallowing; and 190 (89 per cent) for solid swallowing, according to the liberal definition. 3. 3. With the liberal definition of tongue-thrust, a significant χ 2 was obtained comparing large tonsils and small tonsils for liquid and solid swallows, lack of mentalis contraction, or some degree of contraction for saliva swallows. 4. 4. With the conservative definition of tongue-thrust, a significant χ 2 result was obtained comparing large tonsils with small tonsils for solid and liquid swallows, comparing nasal breathing with mouth breathing, and comparing high, narrow palate arches with normal arches. 5. 5. Among these subjects there was a considerable variability of swallowing patterns. This variability was noted in terms of the medium being swallowed. 6. 6. Most of the variables which have been reported in the literature as being causally related to tongue-thrust (feeding patterns, masseter muscle activity, thumb-sucking habits, rugae roughness, and, to a certain degree, mentalis muscle contraction) were not found to be significantly related in these subjects.

We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.

The patient was initially seen at the age of 4 months for failure to gain weight and bilateral inguinal hernias. He was the first-born child of an 18-year-old mother and a 20-year-old father. The pregnancy was term and uncomplicated. Birth weight was 2,410 gm after a breech delivery. Development was apparently normal in the first three months but later leveled off; at 16 months he was unable to sit unassisted or to utter words. Growth and head circumference were in the fifth and tenth percentile, respectively. Pertinent physical findings included a height of 62.4 cm, weight of 5,795 gm, and head circumference of 38 cm. The head and face were abnormal: there were low-set, rounded, protruding ears with poorly developed anti-helix; a higharched, narrow palate; marked micrognathia; and a beaked nose (Fig. 1). The patient had bilateral inguinal hernias, a small penis, and a poorly developed scrotum. The fifth finger of each hand was incurved with a partial single crease on the right palm. There were syndactyly of the second and third toes on the right and of the third and fourth toes on the left. The hips could not be completely abducted (Roentgenograms revealed asymmetry of proximal femoral epiphyses.) An intravenous pyelogram demonstrated pelvocaliectasis and ureterectasis on the right, and a voiding cystourethrogram showed bilateral reflux of the low pressure type.

Treacher Collins syndrome is a complex bilateral malformation. The main characteristics are: microtia with deafness secondary to middle ear anomalies; absence of the zygoma and hypoplasia of the orbital skeleton; lower eyelid colobomata; laxity and dystopia of the lateral canthus; maxillary hypoplasia with narrow palate and choanal atresia; severe micrognathia; and macro-retrogenia.

We report on 2 boys, the sons of sisters, and their mother's brother who have a new, X-linked multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The propositus was a 16-month-old caucasian male with 1) mental retardation, 2) congenital microcephaly, 3) postnatal growth deficiency, 4) ridged metopic suture with narrow bifrontal diameter, 5) upslanted palpebral fissures with persistent epicanthal folds, strabismus, and lacrimal duct obstruction, 6) narrow palate, 7) macrodontia, 8) anteverted ears, 9) atrial septal defect, 10) dry brittle scalp hair and 11) cutis marmorata. His chromosomes were normal. His cousin and uncle were similarly affected. This distinctive MCA/MR syndrome is added to the list of X-linked malformation syndromes known at the present time.

A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14q (14q-) have been reported without consistent clinical findings. Although a clinical syndrome associated with ring chromosome 14, r(14), has been established, no distinct pattern has been so far reported in 14q-.