title: Syndromic dystelephalangy.
abstract: We report an 8-year-old boy with a distinctive facial phenotype, deformities of fingers and toes and limitation of knee movement of unknown etiology. He had a round face, a long nose, a thin upper lip, a small mouth and micrognathia. In spite of microcephaly and retarded speech development secondary to hearing loss his mental development was within normal limits. The most distinctive radiographic abnormality was hypoplasia of the distal end of the middle phalanges with radial deviation of the distal phalanges.
authors: Department of Human Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
authors: Krystyna
authors: K
authors: Chrzanowska
authors: Aleksandra
authors: A
authors: Kowalska
authors: Kazimierz
authors: K
authors: Koziowski
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D019066:Facies; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D034381:Hearing Loss; D006801:Humans; D007717:Knee / Q000002:abnormalities*; D008297:Male; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*