直骨型致死性骨发育不全（2型）
Thanatophoric dysplasia of the straight-bone type (type 2).
作者信息
Norman A M, Rimmer S, Landy S, Donnai D
机构信息
Regional Genetic Service, St Mary's Hospital, Manchester, UK.
出版信息
Clin Dysmorphol. 1992 Apr;1(2):115-20.
PMID:1345514
Abstract
We describe two cases of type 2 thanatophoric dysplasia. Cloverleaf skull and relatively straight, shortened long bones distinguish this condition from the more common type 1 thanatophoric dysplasia.
摘要
我们描述了两例2型致死性骨发育不全病例。三叶草形头颅和相对笔直、缩短的长骨将这种病症与更常见的1型致死性骨发育不全区分开来。
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