致死性多发性翼状胬肉综合征：关于统一病理检查方法及已报道病例综述的建议

Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases.

作者信息

Froster U G, Stallmach T, Wisser J, Hebisch G, Robbiani M B, Huch R, Huch A

机构信息

Department of Obstetrics and Gynecology, University Hospital Zurich, Switzerland.

出版信息

Am J Med Genet. 1997 Jan 10;68(1):82-5. doi: 10.1002/(sici)1096-8628(19970110)68:1<82::aid-ajmg16>3.0.co;2-k.

DOI:10.1002/(sici)1096-8628(19970110)68:1<82::aid-ajmg16>3.0.co;2-k

PMID:8986282

Abstract

We report on 2 brothers with lethal multiple pterygium syndrome (LMPS) born to non-consanguineous parents as late spontaneous abortions. Both fetuses presented with massive nuchal edema, and facial anomalies including cleft palate and broad ribs. Apparently, several subgroups of LMPS exist. Differentiation is difficult, as there is no consistent agreement on a workup protocol for autopsies. We compared the findings in the literature on cases with LMPS, and we suggest a standardized workup as an initial step for more efficient differentiation between various subgroups.

摘要

我们报告了2例患有致死性多发性翼状胬肉综合征（LMPS）的兄弟，他们为非近亲结婚父母所生，表现为晚期自然流产。两个胎儿均出现大量颈部水肿以及包括腭裂和宽肋骨在内的面部异常。显然，LMPS存在几个亚组。由于对于尸检的检查方案没有一致的共识，因此难以进行区分。我们比较了文献中LMPS病例的研究结果，并建议采用标准化检查作为更有效区分不同亚组的第一步。