Bilateral femoral agenesis is a rare anomaly. To the best of our knowledge, only three cases of simple congenital anomaly and three cases associated with femoral facial syndrome have been reported. Here, we describe a simple form of bilateral femoral agenesis observed in one of the 2 dead fetuses delivered after termination of a 24-week twin pregnancy of a normal mother. Post-mortem x-ray exami...

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

Objective. To find out the incidence of involvement of individual arches, anatomical types of lesions, the age and sex incidence, the site and side of predilection, the common clinical features, the common investigations, treatment, and complications of the different anomalies. Setting. Academic Department of Otolaryngology, Head and Neck Surgery. Design. A 10 year retrospective study. Particip...

Cebocephaly is a very rare congenital midline facial anomaly characterized by a blind-ended single nostril and ocular hypotelorism, and is usually combined with alobar holoprosencephaly. We report here a case of alobar holoprosencephaly with cebocephaly and craniosynostosis. Chromosomal analysis revealed normal karyotyping. The facial dysmorphism was characterized by the single nostril, hypotel...

Background The Kabuki syndrome (KS) is a rare genetic, hereditary, autosomic dominant, multiple anomaly syndrome, with an estimated incidence around 1-2/ 100 000 worldwide. Not all of the affected individuals have the same malformations. Five major criteria delineate KS: postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, characteristic facial dys...

The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro-facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these i...

Two patients with congenital anomaly of the craniovertebral junction causing disabling hemifacial spasm (HFS) are presented. In one patient, complete cessation of the HFS occurred for a period of two years following simple bony decompression of the craniovertebral junction raising unanswered questions as to the exact pathogenesis of HFS. Eventually both patients required microvascular decompres...

We report on two unrelated Brazilian patients both presenting a very unusual association of ano/microphthalmia, cystic orbital anomaly, atypical clefting, and facial appendages in one patient. Clinical manifestations presented by these patients represent a MCA/MR syndrome of unknown etiology. Considerations about syndromic delineation, genetic aspects, and differential diagnosis are discussed.

Six children with Aarskoga's facial-digital-genital syndrome are described, and the genetics of the condition discussed. We suggest that this anomaly may be fairly common and that a syndrome identification centre could lead to earlier diagnosis of children with this and other syndromes.