双侧尺骨发育不全、马蹄内翻足与智力发育迟缓：一种新的中肢发育不全综合征。
Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome.
作者信息
Kohn G, Malinger G, el Shawwa R, Scheinfeld A, Tepper R, Ornoy A, Lachman R, Rimoin D L
机构信息
Institute of Human Genetics, Edith Wolfson Medical Center, Holon, Israel.
出版信息
Am J Med Genet. 1995 Mar 27;56(2):132-5. doi: 10.1002/ajmg.1320560203.
PMID:7625433
Abstract
We report on 2 sibs with a previously unreported type of mesomelia of the upper limbs due to ulnar hypoplasia. Prenatal diagnosis was made by ultrasound during one pregnancy and an affected fetus was confirmed. This family documents a previously unreported autosomal recessive syndrome.
摘要
我们报告了2例患有因尺骨发育不全导致的上肢中节短小症的同胞，该类型此前未被报道。在一次妊娠期间通过超声进行了产前诊断，并确认了一名受影响的胎儿。这个家族记录了一种此前未被报道的常染色体隐性综合征。
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