一对近亲结婚父母所生患儿患贲门失弛缓症小头综合征：支持贲门失弛缓症小头综合征为一种独特的常染色体隐性疾病。

Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition.

作者信息

Hernández A, Reynoso M C, Soto F, Quiñones D, Nazará Z, Fragoso R

机构信息

División de Genética, Unidad de Investigación Biomédica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.

出版信息

Clin Genet. 1989 Dec;36(6):456-8. doi: 10.1111/j.1399-0004.1989.tb03376.x.

DOI:10.1111/j.1399-0004.1989.tb03376.x

PMID:2591072

Abstract

A 4 9/12-year-old boy with achalasia microcephaly syndrome (AMS), born to a consanguineous couple, is reported. Comparative analysis of this case and the patients previously described in a Mexican family supports the notion that the syndrome is a distinct autosomal recessive condition. It is interesting that the area of origin and ethnicity of both the present and the previously reported cases is northwest Mexico.

摘要

据报道，一名患有贲门失弛缓症小头综合征（AMS）的4又9/12岁男孩，其父母为近亲结婚。对该病例与先前在一个墨西哥家庭中描述的患者进行比较分析，支持了该综合征是一种独特的常染色体隐性疾病的观点。有趣的是，目前病例和先前报道病例的起源地区和种族均为墨西哥西北部。