Achalasia and microcephaly
- 1 January 1980
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 6 (4) , 309-314
- https://doi.org/10.1002/ajmg.1320060408
Abstract
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.Keywords
This publication has 12 references indexed in Scilit:
- Infantile achalasia: Inherited as an autosomal recessive disorderThe Journal of Pediatrics, 1975
- Congential achalasia of the oesophagus in childrenThe Journal of Laryngology & Otology, 1975
- A possible major contribution to mental retardation in the general population by the gene for microcephalyClinical Genetics, 1975
- X-Chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of “Paine syndrome”?Published by Springer Nature ,1973
- Familial Achalasia with Pulmonary Complications in ChildrenRadiology, 1973
- Achalasia of the Cardia in SibsArchives of Disease in Childhood, 1972
- The neurological lesion in achalasia of the cardiaGut, 1970
- Familial achalasiaDigestive Diseases and Sciences, 1970
- Cardiac achalasia in childhoodPublished by Oxford University Press (OUP) ,1969
- Abnormally small head size and intellect in childrenThe Journal of Pediatrics, 1968