Hernández A, Reynoso M C, Soto F, Quiñones D, Nazará Z, Fragoso R
División de Genética, Unidad de Investigación Biomédica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
Clin Genet. 1989 Dec;36(6):456-8. doi: 10.1111/j.1399-0004.1989.tb03376.x.
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.
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。
