具有严重表现型的IV型口面指综合征（莫尔-马耶夫斯基综合征），其异常谱超出已知范围。
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.
作者信息
Meinecke P, Hayek H
机构信息
Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Federal Republic of Germany.
出版信息
J Med Genet. 1990 Mar;27(3):200-2. doi: 10.1136/jmg.27.3.200.
Abstract
We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic larynx and epiglottis, mesomelic shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely hypoplastic external genitalia with anorchidism, anal atresia, severe congenital heart defect, and renal agenesis. These features show considerable overlap with severe Majewski type short rib-polydactyly syndrome and so expand the known spectrum of anomalies in orofaciodigital syndrome type IV.
摘要
我们报告一名男婴，其具有眼距过宽、上唇正中假性裂和腭裂、分叶状舌、喉和会厌发育不全、四肢中肢短小（特别是胫骨短而宽）、上肢多指畸形、严重发育不全的外生殖器伴无睾症、肛门闭锁、严重先天性心脏缺陷和肾缺如。这些特征与严重的马耶夫斯基型短肋多指综合征有相当大的重叠，从而扩展了已知的IV型口面指综合征的异常谱。
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