Syndromic dystelephalangy.
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.
Chrzanowska
Krystyna
K
Department of Human Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Kowalska
Aleksandra
A
Koziowski
Kazimierz
K
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*