Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.
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 is most consistent with Juberg-Hayward or orocraniodigital syndrome. Several clinical features present in our patient (unilateral distal displacement of elbow position, second-site radioulnar synostosis, bilateral Y-shaped metacarpal, lobular tongue, hypertrophic frenuli, Dandy-Walker malformation) have not previously been reported in this condition, thus expanding the phenotypic spectrum of this rare condition. The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes.
Hedera
Peter
P
Department of Pediatrics, Division of Genetics, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-0618, USA. peter.hedera@vanderbilt.edu
Innis
Jeffrey W
JW
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D009958:Orofaciodigital Syndromes / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D013580:Synostosis / Q000473:pathology*; D013933:Thumb / Q000002:abnormalities*