SHORT syndrome: a new case with probable autosomal dominant inheritance.
A further case of SHORT syndrome is reported. This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly, delay in speech development and in dental eruption. The father and sister showed a striking similarity to the propositus. Moreover, the sister had bilateral and symmetrical lens opacities, which have not been reported previously in affected subjects or their relatives. A variable expression of an autosomal dominant gene can be considered in the present family.
Sorge
G
G
Department of Pediatrics, University of Catania, Italy.
Ruggieri
M
M
Polizzi
A
A
Scuderi
A
A
Di Pietro
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007593:Joint Instability / Q000175:diagnosis; D008060:Lipodystrophy / Q000175:diagnosis; D008297:Male; D013577:Syndrome