Literature DB >> 1785299

Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair.

H K Blomquist1, O Bäck, M Fagerlund, G Holmgren, C Stecksén-Blicks.   

Abstract

A new, Swedish case with Tay or IBIDS syndrome is presented. The boy had growth and mental retardation, congenital ichthyosis and brittle hair. He was the only child in an uncle-niece marriage. The boy suffered recurrent infections and died at the age of 3 years from pneumonia. Clinical data on 15 cases are presented from a study of the literature.

Entities:  

Mesh:

Year:  1991        PMID: 1785299     DOI: 10.1111/j.1651-2227.1991.tb11817.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  4 in total

Review 1.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

2.  Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.

Authors:  L Racioppi; C Cancrini; M L Romiti; F Angelini; S Di Cesare; E Bertini; S Livadiotti; M G Gambarara; G Matarese; F Lago Paz; M Stefanini; P Rossi
Journal:  Clin Exp Immunol       Date:  2001-12       Impact factor: 4.330

3.  Netherton syndrome: report of identical twins presenting with severe atopic dermatitis.

Authors:  Gurkan Kilic; Nermin Guler; Ulker Ones; Zeynep Tamay; Pinar Guzel
Journal:  Eur J Pediatr       Date:  2006-05-03       Impact factor: 3.183

Review 4.  Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

Authors:  V Shashi; J Zunich; T E Kelly; J S Fryburg
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.