Literature DB >> 1583659

Ectodermal dysplasia with blindness in sibs on the island of Rodrigues.

C E Wallis1, P Beighton.   

Abstract

A brother and sister from the island of Rodrigues had mental retardation, blindness owing to severe ocular malformations, short stature, dysmorphic facial features, hypotrichosis, and dental abnormalities. It is likely that they have a hitherto unrecognised autosomal recessive ectodermal dysplasia syndrome.

Entities:  

Mesh:

Year:  1992        PMID: 1583659      PMCID: PMC1015952          DOI: 10.1136/jmg.29.5.323

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  3 in total

1.  Oculodentodigital dysplasia.

Authors:  R J GORLIN; L H MISKIN; J W St GEME
Journal:  J Pediatr       Date:  1963-07       Impact factor: 4.406

2.  Hallermann-Streiff syndrome. Clinical and prognostic considerations.

Authors:  R W Steele; J W Bass
Journal:  Am J Dis Child       Date:  1970-11

Review 3.  The heterogeneity of microphthalmia in the mentally retarded.

Authors:  M Warburg
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03
  3 in total
  1 in total

Review 1.  Classification of microphthalmos and coloboma.

Authors:  M Warburg
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.