Literature DB >> 2704659

Ichthyosis, deafness, and Hirschsprung's disease.

S B Mallory1, L S Haynie, M L Williams, W Hall.   

Abstract

An infant with congenital ichthyosis and deafness developed Hirschsprung's disease. No evidence of keratitis was present. No previous cases of ichthyosis have been associated with aganglionic megacolon. Although no corneal changes were observed, we believe that the clinical features of ichthyosis and deafness suggest the diagnosis of KID (keratitis, ichthyosis, deafness) syndrome. Whether corneal changes would have occurred is unknown, since the infant died of malnutrition and infectious complications.

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Year:  1989        PMID: 2704659     DOI: 10.1111/j.1525-1470.1989.tb00262.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  4 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

Review 2.  Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2012-09-23       Impact factor: 1.827

Review 3.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

Review 4.  Sudden unexpected early neonatal death due to undiagnosed Hirschsprung disease enterocolitis: a report of two cases and literature review.

Authors:  Luiz Cesar Peres; Marta Cecilia Cohen
Journal:  Forensic Sci Med Pathol       Date:  2013-07-11       Impact factor: 2.007

  4 in total

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