Literature DB >> 4042398

Cornelia de Lange syndrome in a mother and daughter.

A Leavitt, N Dinno, C Davis.   

Abstract

The Cornelia de Lange syndrome was first described in 1933. Since then, more than 250 cases have been described in the medical literature. It has generally been considered to be sporadic, but several authors have raised the possibility of genetic factors. We present a mother and child affected with Cornelia de Lange syndrome and raise the possibility of autosomal dominant inheritance.

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Year:  1985        PMID: 4042398     DOI: 10.1111/j.1399-0004.1985.tb00376.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

Review 1.  Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Authors:  K L Russell; J E Ming; K Patel; L Jukofsky; M Magnusson; I D Krantz
Journal:  Am J Med Genet       Date:  2001-12-15

2.  Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases.

Authors:  M Maruiwa; Y Nakamura; K Motomura; T Murakami; M Kojiro; M Kato; M Morimatsu; S Fukuda; T Hashimoto
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1988
  2 in total

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