Literature DB >> 4050848

An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot.

M C Jones, J D Waldman.   

Abstract

This report describes six relatives with a syndrome of mild prenatal-onset growth deficiency, an altered craniofacial appearance, preauricular pits, and clinodactyly of the fifth finger; three had tetralogy of Fallot. The clinical impact of this condition appears to be related to the severity of the cardiac defect. Autosomal dominant inheritance is implied by the occurrence of the disorder in three successive generations with documented male-to-male transmission. Recognition of this syndrome is important in counseling families regarding recurrence risk for tetralogy of Fallot.

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Year:  1985        PMID: 4050848     DOI: 10.1002/ajmg.1320220115

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

Review 1.  Tetralogy of Fallot in three siblings: a familial study and review of the literature.

Authors:  G Pacileo; N N Musewe; R Calabrò
Journal:  Eur J Pediatr       Date:  1992-10       Impact factor: 3.183

Review 2.  Tissue engineering: Relevance to neonatal congenital heart disease.

Authors:  Kevin M Blum; Gabriel J M Mirhaidari; Christopher K Breuer
Journal:  Semin Fetal Neonatal Med       Date:  2021-02-27       Impact factor: 3.726

  2 in total

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