Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant?
A case is presented of a female with cleft palate, digital anomalies and mental retardation. The case is compared with one already reported and possible diagnoses discussed. These cases appear to present a new syndrome or a variant of distal arthrogryposis.
D001176:Arthrogryposis / Q000473:pathology*; D001763:Blepharoptosis / Q000473:pathology*; D002648:Child; D002972:Cleft Palate / Q000473:pathology*; D005260:Female; D005385:Fingers / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D013577:Syndrome