Literature DB >> 2591402

Familial combination of brachydactyly, type E and atrial septal defect, type II.

A Czeizel1, P Göblyös.   

Abstract

Nine members of a three generation family were affected with the combination of brachydactyly, type E and heart defect, mainly atrial septal defect, type II. A similar malformation pattern of autosomal dominant origin has not previously been delineated.

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Year:  1989        PMID： 2591402     DOI： 10.1007/bf01995860

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  4 in total

1.  Familial heart disease with skeletal malformations.

Authors:  M HOLT; S ORAM
Journal:  Br Heart J       Date:  1960-04

2.  Brachydactyly and pseudo-pseudohypoparathyroidism.

Authors:  K P Hertzog
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1968-07

3.  Limb deficiency syndrome in half-sibs.

Authors:  J T Hecht; C I Scott
Journal:  Clin Genet       Date:  1981-12       Impact factor: 4.438

4.  Heart-hand syndrome. III. A new syndrome in three generations.

Authors:  S Ruiz de la Fuente; F Prieto
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  4 in total
  1 in total

Review 1.  Brachydactyly.

Authors:  Samia A Temtamy; Mona S Aglan
Journal:  Orphanet J Rare Dis       Date:  2008-06-13       Impact factor: 4.123
  1 in total

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