Literature DB >> 12185357

Pediatric alacrima, achalasia, and mental retardation.

Kemal Ornek1, Huban Atilla, Güler Zilelioğlu.   

Abstract

Absence or deficiency of tear volume (alacrima) is rarely seen in pediatric ophthalmology. It is often a part of the multiple systemic anomalies like Riley-Day syndrome and anhidrotic ectodermal dysplasia, or it may be associated with adrenal gland insufficiency, achalasia, and neurologic disorders like Allgrove's syndrome. We report on a 7-year-old girl presenting alacrima, achalasia, and mental retardation with normal adrenocortical function.

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Year:  2002        PMID: 12185357     DOI: 10.1067/mpa.2002.124653

Source DB:  PubMed          Journal:  J AAPOS        ISSN: 1091-8531            Impact factor:   1.220


  2 in total

1.  A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability.

Authors:  Edmar O Benítez; Juan J Morales; Luis A Muñoz; Christian A Hübner; Osvaldo M Mutchinick
Journal:  Mol Syndromol       Date:  2018-01-18

2.  4A syndrome: ocular surface investigation in an Italian young patient.

Authors:  Pasquale Aragona; Laura Rania; Anna Maria Roszkowska; Domenico Puzzolo; Antonio Micali; Antonina Pisani; Giuseppina Salzano; Maria Francesca Messina
Journal:  BMC Ophthalmol       Date:  2014-12-08       Impact factor: 2.209

  2 in total

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