Achalasia and microcephaly

Achalasia and microcephaly

The authors report the combination of achalasia, microcephaly, and mental retardation in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections. The achalasia in the females was relieved with an operation. There was no demonstrabl...

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Veröffentlicht in:American journal of medical genetics 1980, Vol.6 (4), p.309-314
Hauptverfasser: Dumars, Kenneth W., Williams, James J., Steele-Sandlin, Constance, Holmes, Lewis B.
Format: Artikel
Sprache:eng
Schlagworte:
achalasia
Adult
autosomal recessive inheritance
Child
Chromosomes, Human - ultrastructure
Esophageal Achalasia - genetics
Female
Genes, Recessive
Humans
Intellectual Disability - genetics
Karyotyping
Male
mental retardation
microcephaly
Microcephaly - genetics
Pedigree
Syndrome
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Beschreibung
Zusammenfassung:The authors report the combination of achalasia, microcephaly, and mental retardation in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections. The achalasia in the females was relieved with an operation. There was no demonstrable chromosomal abnormality. In this family achalasia, microcephaly, and mental retardation occurred together as an apparent autosomal recessive syndrome.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320060408