title: Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changes: a possible new autosomal recessive disorder.
abstract: A 20-year-old male is described with craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly and skeletal changes. On the basis of the clinical and radiological differences with syndromes previously described we classify the present case as a new faciothoracoskeletal syndrome. Parental consanguinity supports autosomal recessive inheritance.
authors.affiliation: Department of Medical Genetics, Gülhane Military Medical Academy and Medical Faculty, Ankara, Turkey.
authors.forename: D
authors.initials: D
authors.lastname: Gül
authors.forename: C
authors.initials: C
authors.lastname: Oktenli
authors.forename: M
authors.initials: M
authors.lastname: Sağlam
authors.forename: U
authors.initials: U
authors.lastname: Erdem
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D003241:Consanguinity; D005124:Eye Abnormalities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D009506:Nevus / Q000235:genetics; D012886:Skull / Q000002:abnormalities