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口腔-面-指综合征的进一步异质性。

Further heterogeneity of the oral-facial-digital syndromes.

作者信息

Townes P L, Wood B P, McDonald J V

出版信息

Am J Dis Child. 1976 May;130(5):548-54. doi: 10.1001/archpedi.1976.02120060094018.

Abstract

Two patients with polysyndactyly of the halluces and typical features of oral-facial-digital syndrome, type I (OFS I), are described. Previously, bilateral hallucal polysyndactyly was considered to be a distinctive feature of OFD II, Mohr syndrome. The original classification of OFD II was based on clinical similarities between the affected members of the Mohr-Claussen kindred and the two siblings described by Rimoin and Edgerton. Review of these cases deomnstrates important clinical differences, so that justification for the original classification of OFD II is questioned. Retrospectively, a small number of individuals have been considered to have had OFD II, but on review these cases appear to represent a clinically heterogeneous group of disorders.

摘要

本文描述了两名患有拇趾多指畸形且具有典型I型口面指综合征(OFS I)特征的患者。此前,双侧拇趾多指畸形被认为是OFD II型(莫尔综合征)的一个显著特征。OFD II型的最初分类是基于莫尔-克劳森家族中受影响成员与里莫因和埃杰顿描述的两名兄弟姐妹之间的临床相似性。对这些病例的回顾显示出重要的临床差异,因此对OFD II型最初分类的合理性提出了质疑。回顾性地看,少数个体曾被认为患有OFD II型,但经复查,这些病例似乎代表了一组临床异质性的疾病。

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