Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities.

@article{Ehrich1987FamilialAA,
  title={Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities.},
  author={E Ehrich and Gaya S Aranoff and William G. Johnson},
  journal={American journal of medical genetics},
  year={1987},
  volume={26 3},
  pages={637-44}
}
We report on two brothers with achalasia, adrenocortical insufficiency, alacrima, short stature, microcephaly, ataxia, optic atrophy, and developmental delay. The parents and three sibs are unaffected. Achalasia, adrenocortical insufficiency, and alacrima comprise a recently characterized familial multisystem disorder of unknown cause. Achalasia has also been described in association with microcephaly and mental retardation in one family and ataxia, optic atrophy, and mental retardation in… CONTINUE READING
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