Chemke J, Oliver M, Mallek D, Kaveh Z
J Genet Hum. 1978 Mar;26(1):17-24.
Multiple congenital eye and hand anomalies occurred in a young female born to normal but consanguineous parents. Both eyes were microphthalmic with severe corneal, iris lens pathology. Ultrasonography revealed multiple echos from the vitreous. The ocular findings are suggestive of retinal dysplasia. A skeletal dysplasia, presenting as distal phalangeal hypoplasia, was found in both hands. There was no history of intrauterine exposure to drugs. This appears to be a unique association of congenital malformations, without other systemic involvement. Diagnostic and genetic implications are discussed.
一名年轻女性出生于父母正常但为近亲结婚的家庭，她患有多种先天性眼和手部异常。双眼均为小眼畸形，伴有严重的角膜、虹膜晶状体病变。超声检查显示玻璃体有多个回声。眼部检查结果提示视网膜发育异常。双手均发现骨骼发育异常，表现为远端指骨发育不全。无宫内接触药物史。这似乎是一种独特的先天性畸形关联，无其他全身受累情况。文中讨论了诊断及遗传学意义。
