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Femoral facial syndrome (FFS) is a rare condition which may present with hypoplasia or aplasia of the femora and unusual facies characterized by long philtrum, thin upper lip and micrognathia. We present the case of a ten-month old infant with FFS who had retroglossal obstruction and who was treated with a pre-epiglottic baton plate. The pre-epiglottic baton plate can be a simple, non-invasive and effective tool for the clinical management of syndromic patients with mild-to-moderate upper airway obstruction due to micrognathia.

Background Cleidocranial dysplasia is a rare autosomal dominant disorder resulting in skeletal and dental abnormalities due to the disturbance in ossification of the bones. The prevalence of CCD is one in a million of live births, and epileptic seizures are rarer in this disease. Case presentation Herein, we present a case of a 10-year-old girl, who not only suffered with cleidocranial dysplasia, but experienced frequent seizures. We initiated an anti-epileptic treatment for this patient with dose adjustments to her weight of levetiracetam (10 mg/kg, bid) for 3 months. The epileptic seizures were controlled, but the intelligence level and control of epilepsy need to be followed up for a longer duration. Conclusions In clinical practice, if a patient has unusual facies, typical clavicle defect, skull bone enlargement, and unclosed anterior fontanelle, we should consider the possibility of cleidocranial dysplasia, genetic detection are helpful to make a confirmed diagnosis. In such cases, early diagnosis and treatment is important to correct deformities and improve the quality of life of patients.

Beachrocks are coastal sediments that are lithified through the precipitation of carbonate cements. It is widely acknowledged that lithofacies in beachrocks are variable and their interpretation is useful when using beachrock as a sea level indicator or when studying shoreline evolution over the centurial to millennial scales. Surprisingly however, the facies variability of beachrocks remains understudied as they are almost exclusively described as seaward dipping, slab-shaped outcrop forming in low energy dissipative beach environments. The Mission Rocks coastline of north-eastern South Africa is in stark contrast. Here the coast comprises an up to 3 m thick raised shore platform of beachrock, where a variety of sedimentological facies are observed. These comprise seaward-dipping planar bedded sandstones and conglomeratic units, often interbedded with bimodally-orientated trough cross bedded sandstones. In our study we aim to use sedimentological facies analysis, petrography and cathodoluminescence to unravel the deposition- and cementation processes of this beachrock facies.In particular, an unusual beachrock breccia interposed amongst the breakdown remnants of the platform forms the basis of this paper. The breccia documents a cycle of simultaneous erosional breakdown and depositional buildup of the beachrock platform, a yet undescribed process for the development of beachrock. Since it forms as a thin veneer (< 0.10 m), with a slightly thicker infill (≤ 0.5 m) amidst erosional hollows and gullies of the + 2 m high rocky platform, it raises into question the necessity of a thick sedimentary overburden, that is typically considered the requirement for beachrock cementation in the mixing zone. Timing of beachrock formation is constrained by recent anthropogenic activities, as the underlaying platform was mined for building purposes during WWII and it is in these quarry slots and crack that the beachrock is found. While it is generally suspected that beachrocks may form at the centennial scale, evidence for this remains weak. Not only can the interpretation of this facies contribute to our understanding of the long term processes that form and break down beachrocks on high energetic coastlines, it provides insight into rapid beachrock formation and as such its utility as a sea level index point.

An 8-month-old boy presented with developmental delay, diffuse hypotonia, hypoplastic left heart syndrome, undescended testes, neonatal thrombocytopenia, and unusual facies. Chromosome microarray showed an 11q23-11q24 deletion, consistent with Jacobsen syndrome (JS).

Background Trisomy 10 is very rarely diagnosed, especially in living persons. Most reports of trisomy 10 pertain to prenatal diagnosis of trisomy 10 in the fetus. In addition, trisomy 10 has been reported as part of partial chromosomal abnormalities in some leukemic cells and tumor specimens. Only 6 cases of mosaicism trisomy 10 have been reported so far. None of these reports pertain to living children with neurological abnormalities. Case presentation We report the case of a 14-month-old girl who was brought for treatment of unusual facies, growth retardation, and patent ductus arteriosus. Karyotype analysis revealed a 47, XX, + 10/46, XX pattern. MRI showed characteristics of Dandy–Walker syndrome and ventricular enlargement in the brain. Conclusions This case is distinguished by its extreme rarity and its potential for use as a reference case of this condition in clinical settings.

Femoral facial syndrome is a rare clinical entity characterized by unilateral or bilateral femoral hypoplasia along with various malformations of face. Only few cases have been detected by antenatal ultrasonography so far. We present the case of one-day-old, male child, born to a primi gravida with oligohydramnios and severe growth restriction. The child had unusual facies with posterior cleft palate, non-communicating hydrocephalus and complete absences of left femur, hypoplasia of right femur, bilateral club foot and bilateral undescended testis.

Introducción: El síndrome de hipoplasia femoral y facies inusual es una enfermedad rara con expresividad hereditaria variable, aunque se han reportado casos con un patrón autosómico dominante. Afecta particularmente las estructuras de la cara asociado a hipoplasia de fémur. Si bien su etiología no ha sido bien identificada, se ha asociado con diabetes materna, exposición a drogas, infecciones virales, radiaciones y oligohidramnios. Objetivo: Presentar el caso de una recién nacida con este síndrome. Caso clínico: Recién nacida de 41 semanas de gestación con nariz pequeña, labio superior delgado, micrognatia, filtrum largo, implantación baja de orejas, epicanto, cadera displásica con flexión y aducción de miembro inferior derecho y acortamiento del mismo a expensas del muslo. En la imagen radiográfica se encontró hipoplasia de fémur derecho con techo acetabular ipsilateral displásico. Se realizó una evaluación completa por distintos especialistas que descartaron otras malformaciones asociadas. Se programó el alargamiento quirúrgico de miembros inferiores a la edad de 5 meses con la finalidad de que deambule con sus propios pies; paralelamente se inició apoyo con kinesiterapia. Conclusiones: El síndrome de hipoplasia femoral y facies inusual es un padecimiento poco frecuente, que implica la participación de un equipo médico multidisciplinario para su manejo. Introduction: Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infections, radiation, and oligohydramnios. Objective: The case of a newborn with this syndrome is presented. Clinical case: Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy. Conclusions: Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome.

The femoral hypoplasia - unusual facies syndrome is a rare disorder, which was described first three decades ago. It is characterised by the occurrence of short femurs with certain associated alterations mainly affecting the face, of which micrognathia is the most frequently found. Although the etiology of this condition is unknown, clear relationship with maternal insulin-dependent diabetes has often been reported, which suggests some sort of inherited component. Nevertheless, most cases occur sporadically. This entity is usually diagnosed after birth because prenatal ultrasound detection is rather difficult. Here, we report a case of prospective detection. So far, such cases have been seldom described in the literature.

Eight family members spanning four generations were found to have 45 chromosome count D/D trnaslocation identified by Giemsa-trypsin banding as t(13q;14q). The only mature male is believed to be infertile on the basis of a very low sperm count with reduced motility. This is believed to be related to the chromosome aberration and not to be coincidental. Aside from this, all were clinically normal except the index case, a young girl with unusual facies and moderate to severe retardation of growth and development. It is believed that her abnormalities were coincidental to the chromosome translocation and fortuitous in locating this family and initiating the pedigree. This example of essentially benign (some males are fertile) Robertsonian centric fusion in humans lends itself to interesting speculations about the results from chance matings between such translocation carriers.

A new camptodactyly syndrome is described in a 16-year-old Sephardic Jewish girl consisting of unusual facies with multiple eye anomalies, short stature, scoliosis, and joint contractures. Parental consanguinity is suggestive of an autosomal recessive mode of inheritance, although a new autosomal dominant mutation cannot be excluded. Fourty-four syndromes associated with camptodactyly are summarized and reviewed.

Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.

A ten-year old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.

In 1973, Jones and Smith described two maternal male first cousins with a similar pattern of malformation, including mental retardation, cubitus valgus, and unusual facies. The purpose of this report is to describe three additional cases, a 10-year-old male and his 30-year-old maternal uncle and an unrelated 15-year-old boy, bringing to five the total number of individuals with this disorder. The principal features include moderate mental retardation, mild microcephaly, a short philtrum, deep-set, downslanting palpebral fissures, multiple nevi, and striking cubitus valgus. Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X-linked recessive mode of inheritance for this condition.

Interstitial deletion of the proximal short arm of chromosome 4, extending from p14 to p16.1 region, results in a distinct clinical syndrome. This proximal 4p deletion syndrome is characterized by variable degrees of mental retardation, unusual facies and minor dysmorphic features. Majority of the patients also show a tall, ectomorphic habitus and normal to excessive linear growth with age. While there have been several cases of such interstitial del(4p) cases reported, familial transmission of this condition has not been documented in the literature. This is the first report of a familial transmission of proximal del(4p) from a mother to her daughter, with both patients showing similar features. This report of the familial transmission of del(4p) has wider implications in genetic counseling.

We report a male infant with an association of hypothyroidism and unusual facies, including blepharophimosis, which is similar to the dysmorphic features observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-7161. On the other hand, the patient also shares many features with those reported as having Ohdo blepharophimosis syndrome [Ohdo et al, (1986) J Med Genet 23:242-244]. Previous case reports are reviewed and difficulties concerning the differential diagnosis of these conditions are discussed.

We report a female patient with severe mental retardation and multiple congenital anomalies. These consist of unusual facies (grooved, nasal tip, ptosis, malformed auricles), abnormal digits, and congenital heart and renal defects. These findings strongly resemble the NFDR syndrome, first described by Freire-Maia et al.

International audience; The provenance of twelve un-worked blocks and one part-knapped block recovered from the surface of five Middle Neolithic sites in the vicinity of Porto Vecchio, southeastern Corsica (western Mediterranean), was determined by ion beam analysis (PIXE). This is the first such discovery on Corsica of actual raw blocks of this exotic material. Twelve of these samples come from sources associated with the Monte Arci volcanic complex of Central-West Sardinia, with six each of the SA and SC chemical types. The only possible origin for the remaining block is Lipari, a raw material previously only attested by three artifacts from a Neolithic site of NW Corsica. This piece is aberrant for its unusual facies and its poor quality, making it quite unsuitable for knapping, and by extent distinct from the high quality glassy obsidian from Lipari that was used regularly by Neolithic peoples. This raises the question of the archaeological significance of this surface find.; La provenance de douze blocs bruts d’obsidienne et d’un treizième tout juste testé, trouvés en surface dans cinq contextes du Néolithique moyen du Sud-Est de la Corse, à proximité de Porto Vecchio, a été déterminée par analyse élémentaire sous faisceau d’ions (PIXE). Ces blocs, d’un matériau dont il n’existe aucune source sur l’île, sont actuellement les seules trouvailles de ce type. Douze de ces obsidiennes proviennent de zones-sources associées au massif du Monte Arci (centre-ouest de la Sardaigne), dont respectivement six de chacun des types de composition chimique SA et SC. Un treizième bloc, n’a pu venir que de l’île de Lipari, une origine connue pour seulement trois autres obsidiennes d’un site néolithique corse, situé dans le Nord-Ouest de la Corse. Son faciès inhabituel et peu propice à la taille ne correspond pas au verre volcanique liparote de grande qualité, utilisé par les néolithiques, ce qui pose la question de sa pertinence archéologique.

Clinical anophthalmia; unusual facies (sloping forehead, prominent nasal root and bridge, large pinnae, mild micrognathia); dextrocardia; vertebral fusion defects; supernumerary ribs; and normal growth and development in infancy.

Unusual facies of the Merensky Reef, the UG-2 and the UG-1 chromitite layers are developed in the western sector of the eastern Bushveld Complex. Within the basal pyroxenite of the Merensky unit, mineralization can be developed at up to four levels. Some of these contain significant mineralization with an increase in the Pt/Pd ratio upward in the succession.

We report a pair of monozygotic twins with unusual facies and hypoplastic thumbs associated with progressive spinal fusion and joint immobility. The radiographic features were neither consistent with the multiple synostosis syndrome of Herrmann, nor with the spondylocarpotarsal synostosis syndrome. The overall spinal radiographic abnormalities seen in our patients were suggestive of an exceptionally early onset of Forestier disease (anterolateral, perivertebral, ligament ossification), but the thumb hypoplasia and pterygium colli are not seen in that condition. We report what might be a novel genetic entity.

A patient is described with renal, ear and hair abnormalities. The patient also had a distinctive facial appearance. No similar patients have been described and it is likely this patient represents a new entity.

A 3-year-old Algerian boy with unusual facies, mesomelic dysplasia of the upper extremities, meta-epiphyseal changes in the lower extremities and skin dimples is reported. The authors are not able to classify the child's syndrome nosologically.

This issue of the Atlas of the Oral and Maxillofacial Surgery Clinics of North America serves as an aid to identification of 70 of the more important head and neck syndromes, and organized using the same nosology as in the landmark text of Robert Gorlin. As such, it should be useful to a varied audience, including not only the oral and maxillofacial surgeon but also the oral pathologist, the practitioner of oral medicine, and members of the craniofacial team--the orthodontist, pediatric dentist, speech and language specialist, geneticist, plastic surgeon, ENT specialist, pediatrician, nurse coordinator, and others. Areas covered include: Craniosynostosis Syndromes; Syndromes Affecting Bone; Metabolic and Autoimmune Syndromes; Syndromes Affecting Skin and Mucosa; Hamartoneoplastic Syndromes; Branchial Arch Syndromes; Clefting Syndromes; Syndromes Affecting the Central Nervous System; Chromosomal Syndromes; Syndromes with Unusual Facies; and Syndromes with Unusual Dental Findings or Gingival Components.

We report a pattern of malformation affecting five of seven siblings born to unaffected Afghani parents who are first cousins. Their first two children died during infancy of cyanotic congenital heart defects. Two living male siblings have tetralogy of Fallot, developmental delay principally affecting language skills, and short palpebral fissures or midfacial hypoplasia. Another male has communicating hydrocephalus and hypertelorism. The striking number of siblings with tetralogy of Fallot, or another cyanotic congenital heart defect, and the parental consanguinity, suggests autosomal recessive inheritance in this family. While several other families have been identified with apparent recessive inheritance of tetralogy of Fallot, the associated malformations in our family suggest a unique, and previously unreported, malformation pattern.

Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely.

A rare Aarskog syndrome is reported in a 12-year-old boy. The patient had a triad of characteristic symptoms consisting of short stature, genital anomaly, and unusual facies. Both jaws were hypoplastic with presence of crowded permanent teeth and over-retained deciduous teeth. Radiographic examination of teeth showed taurodontism, which has not been reported previously.

Schinzelacrocallosal syndrome comprises mental retardation, an unusual facies, Polydactyly and absence of the corpus callosum. Inheritance is autosomal recessive.

Marshall-Smith syndrome comprises motor and mental retardation, accelerated skeletal maturation and an unusual facies. The mode of inheritance is uncertain.

Weaver syndrome comprises overgrowth, advanced skeletal maturation and an unusual facies. Inheritance is probably autosomal recessive.

Ruvalcaba syndrome is an autosomal dominant disorder in which microcephaly and an unusual facies are associated with shortened bones in the extremities and changes in the spine.

Mathieu et al., (1993) reported a family in which a male adult and his son were both affected by unusual facies, cleft palate, congenital brevicollis, diaphragmatic hernia, gastro-oesophageal reflux, and cervical vertebral fusion. Since then, to our knowledge, no other similar cases have been reported. Here we describe a girl presenting with facial features similar to the Mathieu's patients. The association of cervical vertebral fusion, diaphragmatic hernia, and severe gastro-oesophageal reflux seems to confirm this syndrome.

A mother and son affected by idiopathic multicentric osteolysis are reported. This condition usually manifests in early childhood and is characterized by progressive destruction of the carpal and tarsal bones, with or without renal anomalies. Unusual facies might be the clinical features of the syndrome. Review of the literature shows that osteolysis can occur in isolation or may be associated with renal and/or facial anomalies.

Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.

An 8-year-old girl with growth deficiency, mental retardation, unusual facies and hypertrichosis is described. The case is compared with one described by Wiedemannet al.[(1989)Atlas of Clinical Syndromes,2nd ed. London: Wolfe Publishing pp. 198-199].

Three sibs, the offspring of first cousin Pakistani parents, are reported with an apparently 'new' form of spondyloepiphyseal dysplasia with microcephaly, unusual facies and moderate developmental delay.

A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978).

This paper reports two siblings with the Smith-Lemli-Opitz syndrome and reviews the literature on the subject. SLOS is a syndrome of multiple congenital anomalies with mental and growth retardation, unusual facies, genito-urinary and hand and foot abnormalities inherited as an autosomal recessive trait.

Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance seems likely.

A patient with femoral hypoplasia – unusual facies syndrome is presented; this is the eleventh reported patient with this syndrome. In reviewing the literature, three other patients were discovered to have the syndrome.