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“ADAM 综合征”(羊膜畸形、粘连、残缺)——一种颅面和肢体缺陷模式。

"ADAM complex" (amniotic deformity, adhesions, mutilations)--a pattern of craniofacial and limb defects.

作者信息

Keller H, Neuhauser G, Durkin-Stamm M V, Kaveggia E G, Schaaff A, Sitzmann F

出版信息

Am J Med Genet. 1978;2(1):81-98. doi: 10.1002/ajmg.1320020108.

Abstract

We report eight patients with the craniofacial defects and limb anomalies of the (amniotic deformity, adhesions, mutilations) ADAM complex. Facial abnormalities comprise clefts and distortion and dislocation of craniofacial structures; limbs show various combinations of amputation, secondary syndactyly, and constriction. From previous reports and our cases it is obvious that the clinical picture of the ADAM complex varies enormously; a less severe type combines cleft lip and palate with amputations or amniotic bands. Clinical and experimental data suggest that these malformations are of symptomatic (exogenous) origin. Nosologic differentiation from other conditions phenotypically similar but of genetic etiology is important for genetic counseling. Observation of the ADAM complex in two members of a family suggests that genetic factors might operate in some cases.

摘要

我们报告了8例患有(羊膜畸形、粘连、残缺)ADAM综合征颅面缺陷和肢体异常的患者。面部异常包括颅面结构的裂隙、变形和脱位;肢体表现为截肢、继发性并指和缩窄的各种组合。从先前的报告和我们的病例来看,ADAM综合征的临床表现差异极大;一种不太严重的类型将唇腭裂与截肢或羊膜带合并。临床和实验数据表明,这些畸形是症状性(外源性)起源。与其他表型相似但病因是遗传性的疾病进行疾病分类鉴别对于遗传咨询很重要。在一个家族的两名成员中观察到ADAM综合征提示在某些情况下可能存在遗传因素。

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