Sorge G, Ruggieri M, Polizzi A, Scuderi A, Di Pietro M
Department of Pediatrics, University of Catania, Italy.
Am J Med Genet. 1996 Jan 11;61(2):178-81. doi: 10.1002/(SICI)1096-8628(19960111)61:2<178::AID-AJMG16>3.0.CO;2-R.
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.
本文报告了SHORT综合征的另一病例。这名9岁的意大利男孩身材矮小，患有部分脂肪营养不良、轻微面部畸形、关节轻度过度伸展、眼球凹陷、瑞格氏异常、言语发育和牙齿萌出延迟。其父亲和姐姐与先证者表现出显著相似性。此外，姐姐有双侧对称性晶状体混浊，此前在患病个体或其亲属中尚未有过相关报道。该家族可能存在常染色体显性基因的可变表达。
