Affiliation:
1. Department of Pediatrics, Queen's University, Kingston, Ontario
Abstract
Two Libyan brothers with achalasia of the cardia, microcephaly, and mental retardation are described. The parents were first cousins and were normal, as were two other male siblings and the female twin of one of the affected brothers. This is the second family to be reported with this constellation of abnormalities. The literature is reviewed for achalasia associated with other pathological conditions.
Subject
Pediatrics, Perinatology, and Child Health
Cited by
10 articles.
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1. Achalasia–microcephaly syndrome: a further case report;Clinical Dysmorphology;2017-07
2. Achalasia: will genetic studies provide insights?;Human Genetics;2010-08-11
3. A;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
4. Achalasia as the Harbinger of a Novel Mitochondrial Disorder in Childhood;Journal of Pediatric Gastroenterology and Nutrition;2005-04
5. The Triple "A" Syndrome Confirmed by Molecular Analysis: A Case Report of 7-Year-Old Boy;Journal of Pediatric Gastroenterology and Nutrition;2005-01