Juberg-Hayward syndrome: a new case report and clinical delineation of the syndrome.
We report a new case of Juberg-Hayward (orocraniodigital) syndrome (JHS). This 7-year-old Thai boy had characteristic features together with a number of newly recognized findings. Those findings are humeroradial synostosis (HRS), carpal anomalies, simian crease, brachydactyly A4, widely spaced nipples, seizures and myopia. Clinical delineation and correlation between the phenotypes of the syndrome are discussed.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001132:Arm / Q000002:abnormalities; D002648:Child; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D009216:Myopia / Q000473:pathology; D012640:Seizures / Q000473:pathology; D013577:Syndrome; D013580:Synostosis / Q000473:pathology