Literature DB >> 7324930

Extensive congenital malformations in two siblings. Maternal pre-diabetes or a new syndrome?

S P Verloove-Vanhorick, A M Brubakk, J H Ruys.   

Abstract

Two sibs with similar and unusual abnormalities (skeletal malformations, cheilognatopalatoschizis, ear dysplasia, heart malformation) are described. The question as to whether these cases represent a previously undescribed recessive syndrome is discussed.

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Mesh:

Year:  1981        PMID: 7324930     DOI: 10.1111/j.1651-2227.1981.tb05786.x

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


  2 in total

Review 1.  Two brothers with heart defects and limb shortening: case reports and review.

Authors:  W Reardon; J Hurst; T I Farag; C Hall; M Baraitser
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  Lethal femoral-facial syndrome: a case with unusual manifestations.

Authors:  Y Gillerot; C Fourneau; T Willems; L Van Maldergem
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

  2 in total

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