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None of brow lift techniques are completely satisfactory because of their limited effectiveness, lack of longevity, and potential complications. The aim of this study was to provide a comprehensive review of the literature on the pros and cons of the most popular techniques in brow and forehead lift. Relevant original articles in the PubMed database (English language) were sought using the search terms “eyebrow lift”, “forehead lift”, ”periorbital rejuvenation”, ”eyebrow ptosis”, ”blepharoplasty and eyebrow change”, ”surgical eyebrow lift”, and ”non-surgical eyebrow lift”, No date limitation was considered. Titles and abstracts were scanned to include the most pertinent articles. Subsequently, full texts of included articles (111 articles) were skimmed and finally 56 references were selected for the review. A narrative synthesis of data was finally undertaken with particular attention to the indications, techniques, and common complications of the eyebrow lift procedures. Ten popular techniques including two nonsurgical methods (Botulinum toxin A and soft tissue fillers) were reviewed in this article. In general, non-surgical methods of forehead/brow lift are temporary, need less experience and correction would be easier should any complication occur. Surgical methods are divided into three categories: trans-blepharoplasty eyebrow lift, direct eyebrow lift, and trans-forehead eyebrow/forehead lift. Currently, the most popular method is the endoscopic forehead lift approach even though its longevity is limited. Direct brow-lift is particularly useful in patients with facial palsy and those who are more likely to be accepting of the scar (male gender, high forehead hair line).

The importance of understanding HIST1H1E Syndrome is sharing our family's personal journey to find a diagnosis for our daughter, Bonnie Odgers. This syndrome has also been referred to as Rahman Syndrome and HIST1H1E Neurodevelopmental Syndrome depending upon the origin of research. Characteristics of HIST1H1E are curved fingers, full cheeks, high forehead, speech impairments and mild to severe intellectual disability. This article reveals the Odgers' family journey towards a diagnosis, the key physicians research through whole exome genetic testing and revealing characteristics of HIST1H1E.

Heterozygous deleterious variants in PHIP have been associated with behavioral problems, intellectual disability/developmental delay, obesity/overweight, and dysmorphic features (BIDOD syndrome). We report an additional 10 individuals with pleckstrin homology domain-interacting protein (PHIP)-predicted deleterious variants (four frameshift, three missense, two nonsense, and one splice site; six of which are confirmed de novo). The mutation spectrum is diverse, and there is no clustering of mutations across the protein. The clinical phenotype of these individuals is consistent with previous reports and includes behavioral problems, intellectual disability, developmental delay, hypotonia, and dysmorphic features. The additional individuals we report have a lower frequency of obesity than previous reports and a higher frequency of gastrointestinal problems, social deficits, and behavioral challenges. Characterizing additional individuals with diverse mutations longitudinally will provide better natural history data to assist with medical management and educational and behavioral support.

Noonan syndrome (NS; OMIM#163950) is a relatively common autosomal dominant disorder with a worldwide prevalence of approximately 1:1,000 to 1:2,500. The syndrome is characterized by distinctive facial features, congenital heart defects (CHD), and short stature. Distinctive facial features consist of a broad and high forehead, hypertelorism, downslanting palpebral fissures, a high arched palate, low set and posteriorly rotated ears with a thick helix, and a short neck with excess nuchal skin and low posterior hairline. Additional relatively frequent features include chest deformities, cryptorchidism in males, mild intellectual disability, and bleeding diathesis.1,2In 2001, missense mutations in

Background People with high forehead may suffer substantially from feelings of inferiority related to facial appearance. A high forehead can make the face appear longer, larger, and even older. Materials and methods The study included a total of 89 patients with a chief complaint of high forehead who underwent hair transplantation to lower the frontal hairline. A five-point Likert scale was used to assess the subjective satisfaction scores of patients and the objective satisfaction score of the surgeon (1: very unsatisfactory, 2: unsatisfactory, 3: average, 4: satisfactory, 5: very satisfactory). Medical charts and photographs were also reviewed. Results No specific postoperative complications occurred, such as folliculitis, cyst, or facial asymmetry. The average subjective satisfaction score as assessed by patients was 4.2; the average objective satisfaction score as assessed by the surgeon was 4.3. Conclusion Frontal hairline lowering with hair transplantation can be considered a good surgical option for those with a high forehead.

The Wolf–Hirschhorn syndrome (WHS) is a rare chromosomal disorder associated with a partial deletion of the short arm of chromosome 4. The major features of this disorder include a characteristic facial appearance such as a high forehead, highly arched eyebrows, epicanthal folds,coloboma iris and retina, short philtrum, fish-like mouth, low set ears, micrognathia, delayed growth and delayed developmental milestones, intellectual disability and seizures. We are hereby reporting a case which showed typical phenotypic facial features at birth with cloudy cornea.

Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencing, which revealed a heterozygous nonsense mutation in ASXL3 (p.R1036X) that segregated with disease. Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent. The p.R1036X variant has never been observed in healthy human populations and has been previously reported as a pathogenic mutation. Truncating de novo mutations in ASXL3 cause Bainbridge–Ropers syndrome (BRPS), a developmental disorder with similarities to Bohring–Opitz syndrome. Fewer than 30 BRPS patients have been described in the literature; to our knowledge, this is the first report of the disorder in two related individuals. Our findings lend further support to intellectual disability, absent speech, autistic traits, hypotonia, and distinctive facial appearance as common emerging features of Bainbridge–Ropers syndrome.

Background The principle of dynamic muscular activity affecting eyebrow height and shape is well known. We postulate that similarly, dynamics of the fronto-galea-occipital muscles affect forehead height. Objectives To present a forehead lift technique using Botulinum toxin injection and evaluate its clinical efficacy and safety. Methods Twenty-nine female patients comprised the study group. Forty units of prepared abobutolinumtoxinA (Dysport, 10 U/0.05 mL) were injected into 4 points in the hair-bearing scalp, simulating the points of frontalis origin. The glabella and forehead regions were treated with 50 U each. Standard photographs and measurements were taken before and at 2 weeks following treatment. Forehead height was measured bilaterally drawing a vertical line from mid-pupil to frontal hairline (MPFH) and from medial canthus to frontal hairline (MCFH). We assessed outcome differences in patients with low vs high forehead (cutoff value 5.5 cm forehead height). Results Mean age was 48 years (range, 29-66 years). Two weeks following treatment, mean frontal height had increased significantly in all measurement points (MCFH right: 4.1 ± 1.8 mm, MCFH left 4.4 ± 1.8 mm, MPFH right 4.4 ± 2.0 mm, MPFH left 4.7 ± 2.3 mm; P

Diagnostic exome sequencing yields a single genetic diagnosis in ∼30% of cases, and according to recent studies the prevalence of identifying two genetic conditions in a single individual range between 4.6% and 7%. We present a patient diagnosed with three different rare conditions, each explained by a pathogenic variant in a different gene. A 17-yr-old female was evaluated for a history of motor and speech delay, scoliosis, distinctive craniofacial features, and dry skin in the Department of Clinical Genomics at Mayo Clinic. Her distinctive features included prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, and oligodontia. Family history was notable for dry skin in her mother and missing teeth in the paternal grandmother. Previous diagnostic testing was unrevealing including biochemical testing, echocardiogram, abdominal ultrasound, and electroencephalogram. Previous genetic testing included a microarray-based comparative genomic hybridization that was reported normal. Three pathogenic loss-of-function heterozygous variants were identified by exome trio sequencing, each linked to different genetic conditions: SIN3A (Witteveen–Kolk syndrome), FLG (dermatitis), and EDAR (ectodermal dysplasia). Together, these three genetic alterations could explain the patient's overall phenotype. This patient demonstrates the importance of performing a thorough curation of exome data when presented with a complex phenotype. Although phenotypic variability can explain some of these situations, the hypothesis of multiple diseases coexisting in a single patient should never be disregarded completely.

BACKGROUND Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. WHS results from a 4p16.3 deletion. Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS. CASES Here we report our experience on 10 cases of WHS ascertained prenatally between 1983 and 2009 through the CEMC-Auvergne registry of congenital malformations. CONCLUSION The assumption that a “Greek warrior helmet” facies is pathognomonic of WHS could lead to misdiagnosis. Other clinical findings such as severe and early onset intrauterine growth retardation, facial dysmorphism (high forehead, high nasal bridge, low-set ears, micrognathia, hypertelorism), atrial or ventricular septal defect, and renal dysplasia should help obstetricians to suspect the diagnosis of WHS prenatally. Birth Defects Research (Part A), 97:806–811, 2013. © 2013 Wiley Periodicals, Inc.

This study investigated the effect of electrode configuration, stimulus rate, and EEG rejection level on the efficiency of ABR testing in babies.ABR to click stimuli at 40 dB nHL were simultaneously recorded from two electrode configurations, ipsilateral mastoid to high forehead (Mi-Fh) and nape to high forehead (N-Fh), with two EEG rejection levels (± 5 μV and ± 10 μV). Stimulus rates were between 39.1 and 69.1 per second. Efficiency was measured by confidence in the ABR for a given test time.Thirty babies who had passed a targeted newborn hearing screen with ABR thresholds ≤ 40 dB nHL.The N-Fh configuration, as expected, gave on average a larger response amplitude compared to the Mi-Fh configuration but was only marginally significantly better in terms of test efficiency. There was no significant effect of stimulus rate on test efficiency between 39.1/s and 59.1/s. The lower ± 5 μV EEG rejection level was more test efficient.This study provides some evidence that, for ABR threshold testing in babies, alternatives of ipsilateral mastoid or nape electrode and a range of stimulus rates have little or no effect on test efficiency. The results support the use of low EEG rejection limits.

A mentally retarded boy with narrow cranium, high forehead, epicanthic folds, flat nasal bridge, low-set but normal ears, retrognathy, short neck and broad chest with wide-set nipples is described. The routine chromosome and banding analyses revealed a 46,XY,8p- chromosome constitution. The parents had normal chromosomes. On the basis of measurements on reflectodensitometer tracings and of measurements of the individual G-bands directly on photographic prints of the normal and abnormal chromosome 8, an intercalary deletion of band p22 seemed most probable. The clinical features of the patient are compared with the 8p- case of Lubs & Lubs (1973) as well as with four other cases of short arm deletion of an unidentified C-autosome. The clinical features of one of these cases were very similar to those of the boy described. An attempt was made to delineate the clinical characteristics of this new chromosomal deletion syndrome.

A 2-year-old male patient with dysmorphic facial features and multiple congenital anomalies suggestive of a chromosome syndrome is presented. The facial features consisted of a large and high forehead, mild metopic ridging, a small triangular face, depressed nasal bridge, microphthalmia (right more than the left), protruding ears, and mildly prominent anteverted nose with long and smooth philtrum. Cytogenetic analysis showed 46,XY,del(20)(q11.2q12). Parental karyotypes were normal. Molecular characterization of del(20)(q11.2q12) by high-resolution microarray comparative genomic hybridization (arrayCGH) showed an approximately 6.8 Mb deletion. To our knowledge this is the first report of a de novo interstitial del(20)(q11.2q12) characterized by arrayCGH.

Stanley Klatsky, MD Bruce F. Connell, MD Robert W. Bernard, MD Rollin K. Daniel, MD Dr. Klatsky: The first patient is a 58-year-old woman who is unhappy with her forehead and upper lid appearance (Figure 1). People tell her she looks angry. Note that she is blind in her right eye. Dr. Bernard, how would you improve her forehead, brow, and upper lid complex? Figure 1 This 58-year-old woman is unhappy with her forehead and upper eyelids. People tell her that she looks angry. Dr. Bernard: She does look angry and sad, but it is not just because of her upper face. Her blindness in one eye is an important consideration. I might hesitate to remove fat from her upper eyelids just to avoid the possibility of retrobulbar hematoma. She has a reasonably high forehead, and her brows appear relatively low. I would seriously consider an endoscopic brow lift despite her somewhat high forehead and a skin, only upper lid blepharoplasty. I would resect the procerus and corrugator muscles medially, and I would consider Botox to further improve the transverse forehead lines. Dr. Klatsky: Dr. Connell, how would you approach treatment? Dr. Connell: I always like to see an early photograph from a time when the patient was pleased with his or her appearance; from this I note the desired brow position. Brow placement is easier to determine in women because I simply strive to make them look as pretty as possible, but for men there are about 5 different acceptable brow locations. From this photograph, the height from her nasion to her hairline is 16 cm, and the height from her nose to her chin is 12 mm. She is about 30% higher on the upper third of her face than the lower third. I would avoid making her forehead look …

Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted region. The main clinical features are moderate/severe mental and growth retardation, cranio-facial dysmorphism, variable congenital defects and increased susceptibility to tumors. Here we report a 3-year-old girl carrying a de novo 13q13.3-21.32 interstitial deletion. She showed developmental delay, growth retardation and mild dysmorphism including curly hair, high forehead, short nose, thin upper lip and long philtrum. An abnormal mass was surgically removed from her liver resulting in a hemangioendothelioma. Array analysis allowed us to define a deleted region of about 27.87 Mb, which includes the RB1 gene. This is the first report of a 13q deletion associated with infantile hemangioendothelioma of the liver.

We describe two boys with global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged flesh years, depressed nasal bridge, anteverted nostrils, central palatal ridge, and high forehead. Bilateral congenital fat pads are present anteromedial to the heels. Fetal finger and toe pads are present and palmar and plantar grooves are deeper than normal with “pillowing” of the areas between the grooves. No patients with similar clinical findings have been located, but these two children have a remarkably similar clinical presentation which we consider a “new” syndrome. Am. J. Med. Genet. 75:18–21, 1998. © 1998 Wiley-Liss, Inc.

The patient was a 62-year-old woman seen in consultation for basal cell carcinoma of the nose. Ten years earlier, she had undergone a trichophytic forehead lift and cervicofacial rhytidectomy. Physical examination revealed extremely thin nasal skin showing the outline of her delicate alar cartilages. A scaly lesion involved the skin covering the nasal tip and a portion of the left sidewall. The tumor extended inferiorly to the junction of the tip and columella and appeared to involve most of the skin of the right ala (Fig. 19.1). The patient had a relatively high forehead and a trichophytic scar that extended the full length of the anterior hairline.

We delineate a pure "distal 14q duplication" phenotype, characterized by primordial short stature, mild developmental delay, and distinct facial dysmorphism with high forehead, mild hypertelorism, broad nasal bridge, dysplastic ear helices, short philtrum, thin and "cupid bow" upper lip, broad mouth, and micrognathia.

Wolf-Hirschhorn syndrome has characteristic craniofacial dysmorphism with severe fetal growth restriction. We present a case that revealed facial dysmorphism characteristic of Wolf-Hirschhorn syndrome with two- and three-dimensional ultrasonography. The facial dysmorphic features in the present case were dolichocephaly; high forehead; large rectangular nose continuing to the eyebrows; hypertelorism; short philtrum; carp-shaped mouth; microretrognathia; and large, simply modeled, low-set ears. Chromosome analysis of amniotic fluid cells was 46,XX,del(4)(p15.2), confirming the ultrasonographic result. Examination with two- and three-dimensional ultrasonography is useful to observe the face of fetuses with severe intrauterine growth restriction to diagnose multiple congenital anomaly syndromes.

This is a report of a case of cardio-facio-cutaneous (CFC) syndrome in a three-year-old boy. Apart from obvious signs of retardation in his mental and motor development, the child was conspicuous through his short stature, relative macrocephaly, vitium cordis, pendular nystagmus and ptosis and optic atrophy on both sides. The typically dysmorphic facial features that characterize this syndrome such as high forehead, biparietal impression, downward slant of the palpebral fissures, hypoplastic supraorbital ridges, depressed nasal bridge, high palate, and dysplasia of the ears, were particularly marked in this case. The hands and feet were plump, the skin rather thick, and the hair sparse and very curly. A chromosome analysis as well as metabolism tests proved normal. Until now there have been 27 reports of such cases in medical literature.

A large family is described in which patent ductus arteriosus in association with an unusual facial appearance affected nine family members in three generations. The segregation pattern suggests autosomal dominant inheritance with incomplete penetrance with respect to the PDA. The facial features included a broad, high forehead, flat profile, and short nose with a broad, flattened tip.

Dear Editor: When designing the frontal hairline for hair transplantation patients, esthetic preference as well as the progression of hair loss should be considered1. With regard to female- and male-pattern hair loss, creating the frontal hairline is relatively easier in female patients than in male patients2. The current trend in female hair transplantation highlights that the majority of hairline reconstructions are performed not for correcting female-pattern hair loss but for cosmetic purposes, so great emphasis is placed on designing the hairline according to esthetic preference3,4. In the hairline transplantation procedure, a frame for the desired forehead shape is created by designing a frontal hairline. Here, the overall forehead shape and hairline height are important aspects5. The round forehead shape is considered the standard forehead shape for Asians6. However, Lehman7 claimed that beauty should be evaluated using a unified standard, regardless of racial and ethnic characteristics, social background, and personal preferences. Furthermore, esthetic preference can be affected by various factors like gender, age, education, economic conditions, and a place of residence8. The hairline height was defined as the point between the eyebrows to the lowest hairline, and the mid-lower face, the area between the eyebrows and the lowest jaw line, as illustrated in Fig. 1, ​,2,2, respectively. We obtained informed consent for using the photos from the female model. Eight photographs were fabricated for the survey. The triangular, round, rectangular, and M-shaped frontal hairline images were generated9 (Fig. 1). We also aimed to determine the preferred hairline height in the round forehead shape. Four photographs with different forehead heights in the round shape were also fabricated (Fig. 2). As opposed to the standard forehead height shown in all photographs in Fig. 1 (upper : mid-low=1 : 2), in Fig. 2, 1 photograph showed low forehead height (upper : mid-low=0.9 : 2), and 2 high forehead height (upper : mid-low=1.1 : 2, 1.2 : 2, respectively). Fig. 1 Hairline contours (shape, frequency [%]=(A) triangular, 84 [13.8%]; (B) round, 114 [18.7%]; (C) rectangular, 130 [21.3%]; (D) M-shaped, 281 [46.1%]; total, 609 [100.0%], respectively). Fig. 2 Height of the forehead (upper : mid-low, frequency [%]=(A) 0.9 : 2, 173 [28.4%]; (B) 1 : 2, 230 [37.8%]; (C) 1.1 : 2, 158 [25.9%]; (D) 1.2 : 2, 48 [7.9%]; total, 609 [100.0%], respectively). The survey was emailed to 609 participants (290 men and 319 women) from November 3rd, 2011 to November 9th, 2011 via the online survey site "www.mysenic.com"; of them, 14 participants had undergone hair transplantation. The respondents were asked to choose the hairline they preferred from among the 4 photographs in Fig. 1, ​,22 each. The results of the statistical analysis of the preferences are shown in Fig. 1, ​,2.2. The M-shaped hairline contour was the most preferred contour, followed by the rectangular contour, round contour, and triangular contour, which was the least preferred. Regarding the hairline height in the round forehead shape, the low mid-face to upper face ratio, 2 : 1, was the most preferred height (Fig. 2B). The next most preferred hairline was that in Fig. 2A, followed by those in Fig. 2C, and Fig. 2D with the highest height, which was the least preferred height. The relationship between hairline contour and sex, age, marital status, education, geographic location, history of hair loss, satisfaction with own hairline, history of hair loss treatment, desire for hair transplantation showed no statistical significance. However, a significant association was found between history of hair transplantation and hairline contour preference, as those that had undergone hair transplantation preferred the triangular or round contour. Significant differences were found in forehead height preference between both sexes and between those with or without history of hair transplantation. As opposed to women, men preferred the lower forehead heights, and those who had a history of hair transplantation preferred the highest forehead height. There was no statistically significant difference in the relationship between forehead height and other factors mentioned above. The group that had undergone hair transplantation preferred the triangular and round hairline contours and the highest forehead height. The 2 reasons behind this finding could be as follows: the participants who underwent hair transplantation preferred relatively narrow foreheads, and the information they received about hair transplantation from the hospitals, as part of their marketing strategies, and other factors during hair transplantation led to changes in the preferences of those participants-the latter case holds more weight age over the former case. Generally, people obtain information about hairlines from the homepages of the hospitals where hair transplantation is performed. The information provided by the hospitals mainly discusses the round hairline and limited options are provided for hairline contours. Usually, the frontal hairline is designed on the forehead of the patient before transplantation, and the patient is asked to confirm the contour; this procedure is done by drawing the outline of the hairline on the patient's forehead using a pen, and it is difficult for the patient to imagine the final appearance with fully grown hair, so the patients tend to accept the recommendations of the doctors. We suggest that the doctors have access to patient preference and refrain from performing the transplantation procedure for the standard round contour in all patients. For this purpose, the patient's image can be simulated with various hairline contours to determine the one preferred by the patient. Furthermore, the survey results cannot be considered entirely reliable because the sincerity of the respondents is questionable, as the survey was conducted online. Moreover, pre-determined forehead shape and hairline height were used in the survey. In addition, the small number of participants that had undergone hair transplantation also reduced the reliability of the findings. For obtaining reliable results, future studies with a large sample size need to be conducted.

We are reporting an interesting case of ichthyosis follicularis with alopecia and photophobia syndrome in a daughter and father from the Indian subcontinent associated with Meibomian gland dysfunction. A three-year-old female child presented with pain, redness and severe photophobia in both eyes since one month. Cutaneous examination revealed ichthyosis, absence of hair all over the body including eyebrows, scalp and angular cheilosis. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in right eye and corneal epithelial defect in the left eye. Other systemic features were prominent high forehead and large ears. Her father had similar symptoms. Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present.

A patient with a 14q32.3 terminal band deletion and cat cry is reported. Review of four other 14q32.3 deletion cases suggests the possible presence of a recognisable 14q32.3 terminal deletion syndrome, which is characterised by (1) apparently postnatal onset of small head size in comparison to body size, (2) high forehead with lateral hypertrichosis, (3) epicanthic folds, (4) broad nasal bridge, (5) high arched palate, (6) single palmar crease, and (7) mild to moderate developmental delay. Although none of the above seven features in unique to this syndrome, and indeed are quite common in other chromosomal disorders or genetic syndromes, patients with a terminal 14q32.3 deletion do show a recognisable facial gestalt. Interestingly, unlike ring chromosome 14, the 14q32.3 terminal deletion has rarely been reported, possibly because it is harder to detect, and an optimal chromosome preparation is required for its identification.

We report on facial anomalies including round face, high forehead, flat philtrum, apparently low-set ears, and short neck in 4 unrelated patients with mitochondrial respiratory enzyme deficiency. Pre- and postnatal growth retardation with microcephaly, brachydactyly, and hypoplasia of distal and middle phalanges was present in all 4 cases. The diagnosis of respiratory chain deficiency was confirmed by enzymatic and molecular studies. The combination of facial anomalies, prenatal growth failure, and malformations is suggestive of antenatal expression of the disease, and raises the question of the part that respiratory chain deficiencies play in human malformations.

An autopsy case of cerebro-hepato-renal syndrome of Zellweger, which occurred in a 14-year-old Japanese girl, is reported. The autopsy revealed widely distributed cystic changes in addition to renal blastema of both kidneys, and the liver was cirrhotic. The case was complicated by anomalies such as high forehead, strabismus, and partial defect of chorioidea. So far there have been only 10 reported cases of cerebro-hepato-renal syndrome of Zellweger in Japan.

Twenty-three families with X-linked mental retardation were examined for the presence of a fragile site on the long arm of the X chromosome (Xq27 fra). Specific culture media were necessary to demonstrate this site. In only seven of the families was the Xq fragile site observed; in these, all of the affected males had both the fragile X and macro-orchidism. Macro-orchidism was not observed in the remaining 16 families. In the families with Xq27 fra segregating, the fragile X could only be demonstrated in a proportion (4/12) of the obligatory heterozygotes. This correlated with the age of the carrier. The 25 affected males with macro-orchidism and Xq27 fra had some minor clinical features in common: there was an increase in birth weight, high forehead, prognathism, pale irides, big ears, and an increased head circumference in infancy and childhood which did not persist into adult life. The majority of the affected individuals were moderately retarded.

Ellis–van Creveld syndrome (EVC) is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. We report a patient with the typical features of the syndrome but with facial dysmorphic features (upward slant of eyes, megalocornea and high forehead), for the first time in the literature.

The ipsilateral mastoid to vertex and ipsilateral mastoid to high forehead electrode arrays were found to have equal efficacy in recording the auditory brain stem and middle latency responses in both open and closed filtered conditions. It is concluded that the ipsilateral mastoid to high forehead electrode array is a valid clinic alternative for use in evoked response testing.

A case of Miller-Dieker syndrome is reported. A 6-month-old baby girl has the characteristics of the syndrome. Post natal growth deficiency: microcephaly, profound mental retardation. Craniofacial defects: micrognathia, ear abnormalities, anteverted nares, wrinkling of forehead, bitemporal growing of high forehead. Neurological abnormalities: opisthotonos, epilepsy, initial hypotonia. The literature is reviewed.

Two profoundly mentally mentally retarded brothers with partial trisomy for the distal part of the short arm of chromosome 3 (3p25→3pter) are described. Their anomaly arose as a segregation product of a balanced t(3p-;18q+) translocation in the mother. Compared with the other cases of partial 3p trisomy reported up to now, the present patients display a similar craniofacial dysmorphism with hypertelorism, broad nasal tip, short upper lip with prominent philtrum, and a large mouth with down-turned corners. Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.

The fifth case of trisomy 10 mosaicism is presented. Only in cultured fibroblasts this mosaicism was found, while peripheral lymphocytes revealed a normal karyotype. In comparison with the literature, trisomy 10 mosaicism syndrome is further delineated compromising of failure to thrive, high forehead, hypertelorism, mongoloid eye slant, blepharophimosis, dysplastic, large ears, retrognathia, long slender trunk, marked plantar and palmar furrows, cardiopathy and early death.

Craniofrontonasal dysplasia (CFND) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and hypertelorism. The parents were normal and there was no family history suggestive of CFND. A small recurrence risk was counselled and prenatal ultrasound was recommended in the next pregnancy. At 23 weeks, the ultrasound scan detected a number of dysmorphic features and the pregnancy was terminated. Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles. This report highlights the occurrence of CFND in two male siblings born to normal parents, and therefore the need to perform prenatal ultrasound in a subsequent pregnancy, even if CFND is diagnosed in an isolated case.

We report on a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q31.2-2q32.3. The patient shows severe mental retardation, absence of speech, sleep disturbances, behavioral problems, and some dysmorphic features. In particular, he presents with macrocephaly, high forehead, thick and coarse hair, thick eyebrows, synophrys, increased inner and outer canthal distance, bifid nasal tip, high palate, micrognathia, dysmorphic right ear, and long and tapering fingers. Array-CGH analysis allowed us to identify and characterize a 2q interstitial deletion of about 13 Mb, involving the segment between cytogenetic bands 2q31.2 and 2q32.3. The deletion was confirmed by quantitative PCR. We compare the phenotype of our patient with those already reported in literature. In particular, we discuss the similarities shared with two recently reported patients, studied by array-CGH, who show an overlapping deletion. The common clinical features are: long face, high forehead, abnormal teeth and ears, midface hypoplasia, high palate, micrognathia, transparent and thin skin, high frequency of inguinal hernia, severe development impairment, and behavioral problems. Some genes located in the deleted region may be good candidates for the neurological phenotype such as ZNF533 and MYO1B, which are both involved in neuronal function. Furthermore, the GLS gene could be a good candidate in generating the behavioral phenotype in the patient. In fact, it encodes for the major enzyme yielding glutamate from glutamine and it can be implicated in behavioral disturbances in which glutamate acts as a neurotransmitter.