Literature DB >> 2074559

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

W Reardon1, J Hurst, T I Farag, C Hall, M Baraitser.   

Abstract

Two male Arab sibs are reported with congenital heart disease and skeletal malformations. Other published case reports sharing some features in common with these brothers are considered. However, clinical and radiological features in these boys are distinct enough to represent a new cardioskeletal syndrome.

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Year:  1990        PMID： 2074559      PMCID： PMC1017278          DOI： 10.1136/jmg.27.12.746

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


  7 in total

1.  Humero-spinal dysostosis with congenital heart disease.

Authors:  K S Kozlowski; J M Celermajer; A R Tink
Journal:  Am J Dis Child       Date:  1974-03

2.  A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations.

Authors:  D Urbach; M Hertz; M Shein; R M Goodman; M Shine
Journal:  Clin Genet       Date:  1986-01       Impact factor: 4.438

3.  Consanguinity among the Kuwaiti population.

Authors:  S A Al-Awadi; M A Moussa; K K Naguib; T I Farag; A S Teebi; M el-Khalifa; L el-Dossary
Journal:  Clin Genet       Date:  1985-05       Impact factor: 4.438

4.  A new syndrome. Short limbs, abnormal facial appearance, and congenital heart defect.

Authors:  M Barrow; J S Fitzsimmons
Journal:  Am J Med Genet       Date:  1984-07

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

Authors:  S P Verloove-Vanhorick; A M Brubakk; J H Ruys
Journal:  Acta Paediatr Scand       Date:  1981-09

6.  Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies.

Authors:  J M Opitz; J W Spranger; H R Stöss; H J Pesch; B Azadeh
Journal:  Am J Med Genet       Date:  1987-03

7.  Congenital lethal metaphyseal chondrodysplasia: a newly recognized complex autosomal recessive disorder.

Authors:  M R Sedaghatian
Journal:  Am J Med Genet       Date:  1980
  7 in total
  1 in total

Review 1.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318
  1 in total

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