Reynolds J F, Webb M J, Opitz J M
Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Am J Med Genet Suppl. 1986;2:143-50. doi: 10.1002/ajmg.1320250618.
We report on a family in which a previously undescribed acrofacial dysostosis syndrome is segregating as an autosomal dominant trait. Craniofacial manifestations are those of mild mandibulofacial dysostosis and are quite constant among affected relatives. The acral abnormalities are quite variable, affecting predominantly the radial ray. Variability extends from thumb duplication in one patient to mild hypoplasia of the first metacarpal and first proximal phalanx in most affected individuals. Mandibulofacial dysostosis is a causally nonspecific malformation and as such represents an apparently monotopic developmental field defect. Its occurrence with acral anomalies in several conditions of different cause represents a polytopic developmental field defect.
我们报告了一个家族，其中一种先前未描述的肢端面部发育不全综合征作为常染色体显性性状进行分离。颅面部表现为轻度下颌面部发育不全，在受影响的亲属中相当一致。肢体异常变化很大，主要影响桡侧射线。变异范围从一名患者的拇指重复畸形到大多数受影响个体的第一掌骨和第一近端指骨轻度发育不全。下颌面部发育不全是一种病因不明确的畸形，因此代表了一个明显单一部位的发育场缺陷。它在几种不同病因的情况下与肢体异常同时出现，代表了一个多部位的发育场缺陷。
