Familial achalasia with absent tear production.
Three of five siblings were evaluated because of dysphagia and failure to thrive. Radiologic and manometric studies were consistent with achalasia of the cardia. All of these siblings had deficient tear production. This report documents the unusual association of familial achalasia and deficient tear production, which is probably an autosomal recessive inherited syndrome.
Nussinson
E
E
Gastroenterology Unit, Central Emek Hospital, Afula, Israel.
Hager
H
H
Samara
M
M
Bar-Nathan
N
N
Siplovich
L
L
D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004931:Esophageal Achalasia / Q000235:genetics*; D004947:Esophagus / Q000503:physiopathology; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010528:Peristalsis; D013577:Syndrome; D013666:Tears / Q000378:metabolism*