Article
Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.
American journal of medical genetics. Part A - 15 Oct 2003
Hedera Peter, Innis Jeffrey W
Abstract excerpt
We report a patient with severe mental retardation (MR), microcephaly, Dandy-Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, including Y-shaped metacarpals and urogenital abnormalities. High-resolution karyotype and subtelomeric fluorescence in situ hybridization were normal. We propose that his clinical picture...
Topics
- Adolescent
- Child
- Child, Preschool
- Cleft Palate
- Developmental Disabilities
- Follow-Up Studies
- Genotype
- Humans
- Orofaciodigital Syndromes
- Phenotype
- Synostosis
- Thumb