Treacher Collins syndrome and achalasia.
Achalasia is often a familial disease and may be inherited in association with other familial defects. I report a patient born with a familial facial dysostosis, Treacher Collins syndrome, who also has achalasia to propose that these two defects are associated familial disorders in this patient.
Department of Medicine, St. Thomas Hospital, Nashville, TN 37202.
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Schneider
D000328:Adult; D004931:Esophageal Achalasia / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000150:complications* / Q000235:genetics