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J Med Genet. 1995 August; 32(8): 633–635.
PMCID: PMC1051639

Congenital heart disease in spondylothoracic dysostosis: two familial cases.

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Karnes PS, Day D, Berry SA, Pierpont ME. Jarcho-Levin syndrome: four new cases and classification of subtypes. Am J Med Genet. 1991 Sep 1;40(3):264–270. [PubMed]
  • McCall CP, Hudgins L, Cloutier M, Greenstein RM, Cassidy SB. Jarcho-Levin syndrome: unusual survival in a classical case. Am J Med Genet. 1994 Feb 1;49(3):328–332. [PubMed]
  • Ohzeki T, Shiraishi M, Matsumoto Y, Takagi J, Motozumi H, Hanaki K, Ishitani N, Matsuda-Ohtahara H, Okuda H, Hoshika T, et al. Sporadic occurrence of spondylocostal dysplasia and mesocardia in a Japanese girl. Am J Med Genet. 1990 Nov;37(3):427–428. [PubMed]
  • Sharma AK, Phadke SR. Another case of spondylocostal dysplasia and severe anomalies: a diagnostic and counseling dilemma. Am J Med Genet. 1994 May 1;50(4):383–384. [PubMed]
  • Tolmie JL, Whittle MJ, McNay MB, Gibson AA, Connor JM. Second trimester prenatal diagnosis of the Jarcho-Levin syndrome. Prenat Diagn. 1987 Feb;7(2):129–134. [PubMed]

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