Literature DB >> 7473656

Congenital heart disease in spondylothoracic dysostosis: two familial cases.

J M Simpson1, A Cook, N L Fagg, N A MacLachlan, G K Sharland.   

Abstract

Two familial cases of spondylothoracic dysostosis are reported. Both cases had severe congenital heart disease in addition to the skeletal malformations which are characteristic of the condition.

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Year:  1995        PMID： 7473656      PMCID： PMC1051639          DOI： 10.1136/jmg.32.8.633

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


  5 in total

1.  Sporadic occurrence of spondylocostal dysplasia and mesocardia in a Japanese girl.

Authors:  T Ohzeki; M Shiraishi; Y Matsumoto; J Takagi; H Motozumi; K Hanaki; N Ishitani; H Matsuda-Ohtahara; H Okuda; T Hoshika
Journal:  Am J Med Genet       Date:  1990-11

2.  Second trimester prenatal diagnosis of the Jarcho-Levin syndrome.

Authors:  J L Tolmie; M J Whittle; M B McNay; A A Gibson; J M Connor
Journal:  Prenat Diagn       Date:  1987-02       Impact factor: 3.050

3.  Another case of spondylocostal dysplasia and severe anomalies: a diagnostic and counseling dilemma.

Authors:  A K Sharma; S R Phadke
Journal:  Am J Med Genet       Date:  1994-05-01

4.  Jarcho-Levin syndrome: unusual survival in a classical case.

Authors:  C P McCall; L Hudgins; M Cloutier; R M Greenstein; S B Cassidy
Journal:  Am J Med Genet       Date:  1994-02-01

Review 5.  Jarcho-Levin syndrome: four new cases and classification of subtypes.

Authors:  P S Karnes; D Day; S A Berry; M E Pierpont
Journal:  Am J Med Genet       Date:  1991-09-01
  5 in total

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