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Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition
Author(s) -
Hernández Alejandro,
Reynoso Martha Celina,
Soto Fernando,
Quiñones David,
Nazará Zamira,
Fragoso Ruben
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb03376.x
Subject(s) - microcephaly , consanguinity , achalasia , pediatrics , medicine , autosomal recessive inheritance , consanguineous marriage , genetics , biology , gene , esophagus
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.