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辛泽尔综合征(又称脑胼胝体发育不全综合征)

Schinzel acrocallosal syndrome.

作者信息

Gulati Sheffali, Menon Shaji, Kabra Madhulika, Kalra Veena

机构信息

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Pediatr. 2003 Feb;70(2):173-6. doi: 10.1007/BF02723749.

Abstract

Acrocallosal syndrome (ACLS), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and absence of corpus callosum, is a rare genetic disorder that is apparent at birth. Although autosomal recessive inheritence has been suggested, ACLS often appears to occur sporadically. Typical characteristics of ACLS are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. It has not been reported from India so far. This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome.

摘要

胼胝体发育不全综合征(ACLS),其同义词还有:申策尔胼胝体发育不全综合征以及拇趾重复、轴后多指并胼胝体缺如,是一种出生时就明显可见的罕见遗传疾病。尽管有人提出其为常染色体隐性遗传,但ACLS常常表现为散发性。ACLS的典型特征包括胼胝体发育不全/缺失、中度至重度智力迟钝、典型的颅面异常、独特的手指畸形以及生长发育迟缓。到目前为止,印度尚未有相关报道。本文报告了一名5个月大的男婴,其异常表现符合胼胝体发育不全综合征。

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