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一对近亲结婚父母所生的非洲兄弟患有顶体胼胝体综合征。

Acrocallosal syndrome in two African brothers born to consanguineous parents.

作者信息

Christianson A L, Venter P A, Du Toit J L, Shipalana N, Gericke G S

机构信息

Department of Human Genetics and Developmental Biology, University of Pretoria, South Africa.

出版信息

Am J Med Genet. 1994 Jun 1;51(2):98-101. doi: 10.1002/ajmg.1320510204.

Abstract

We describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS.

摘要

我们描述了两名患有颅面异常、多指畸形以及其他与肢端胼胝体综合征(ACS)相符临床表现的智力发育迟缓兄弟。他们是首批来自非洲且被诊断为此病的黑人患者。他们也是第四组被描述患有ACS的同胞兄弟,并且结合该家族中记录的父母近亲结婚情况,证实了该综合征的常染色体隐性遗传。我们患者的临床表现证实了该综合征在家族内的变异性。生长发育迟缓在出生后出现被认为是ACS的另一种表现。

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