title: Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.
abstract: Cenani-Lenz syndrome (CLS; MIM 212780) is a rare autosomal recessive syndactyly/synostosis syndrome. No facial dysmorphism was previously noted. We studied two families; in the first an affected female had a previously affected brother and her father was said to have been similarly affected. Extensive inbreeding in this family suggests quasidominant inheritance. In the second family there was a history of a similarly affected sib who, in addition, had genital anomalies and cleft palate. The parents were first cousins. Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose, a short prominent philtrum and malar hypoplasia. The present report suggests mild facial dysmorphism and quasidominant inheritance in one family with Cenani-Lenz syndrome.
authors.affiliation: Department of Human Genetics, National Research Centre, Cairo, Egypt. stemtamy@intouch.com
authors.forename: Samia A
authors.initials: SA
authors.lastname: Temtamy
authors.forename: Samira
authors.initials: S
authors.lastname: Ismail
authors.forename: Amany
authors.initials: A
authors.lastname: Nemat
mesh_terms: D000328:Adult; D003744:Dental Enamel Hypoplasia / Q000235:genetics / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013576:Syndactyly / Q000235:genetics*; D013580:Synostosis / Q000235:genetics*