title: Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition.
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.
authors.affiliation: División de Genética, Unidad de Investigación Biomédica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
authors.forename: A
authors.initials: A
authors.lastname: Hernández
authors.forename: M C
authors.initials: MC
authors.lastname: Reynoso
authors.forename: F
authors.initials: F
authors.lastname: Soto
authors.forename: D
authors.initials: D
authors.lastname: Quiñones
authors.forename: Z
authors.initials: Z
authors.lastname: Nazará
authors.forename: R
authors.initials: R
authors.lastname: Fragoso
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D004931:Esophageal Achalasia / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome