Literature DB >> 9655320

Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs.

I Koné-Paut1, S Hesse, C Palix, R Rey, K Rémédiani, J M Garnier, P Berbis.   

Abstract

The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports including three of vertical transmission and one of two affected sisters born from consanguineous, unaffected parents. We report for the first time a familial case of KID syndrome in two half siblings born to the same unaffected mother. This new observation allows us to propose various hypotheses about its mode of inheritance.

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Year:  1998        PMID: 9655320     DOI: 10.1046/j.1525-1470.1998.1998015219.x

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


  3 in total

1.  Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Authors:  Gabriele Richard; Fatima Rouan; Colin E Willoughby; Nkecha Brown; Pil Chung; Markku Ryynänen; Ethylin Wang Jabs; Sherri J Bale; John J DiGiovanna; Jouni Uitto; Laura Russell
Journal:  Am J Hum Genet       Date:  2002-03-22       Impact factor: 11.025

2.  Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

Authors:  Viviana Karina Dalamón; Paula Buonfiglio; Margarita Larralde; Patricio Craig; Vanesa Lotersztein; Keith Choate; Norma Pallares; Vicente Diamante; Ana Belén Elgoyhen
Journal:  BMC Med Genet       Date:  2016-05-04       Impact factor: 2.103

3.  [Keratitis-Ichthyosis-Deafness syndrome (KID) in a Togolese child born from a consanguineous marriage].

Authors:  Koussak Kombaté; Bayaki Saka; Dadja Essoya Landoh; Abass Mouhari-Toure; Séfako Akakpo; Eric Belei; Wanguena Gnassingbé; Mohaman Awalou Djibril; Kissem Tchangaï-Walla; Palokinam Pitché
Journal:  Pan Afr Med J       Date:  2015-08-07
  3 in total

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