Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?

Fiche publication


Date publication

janvier 2007

Auteurs

Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick


Tous les auteurs :
Thauvin-Robinet C, Laurent N, Rousseau T, Couvreur S, Cusin V, Callier P, Mugneret F, Durand C, Huet F, Sagot P, Faivre L

Résumé

Casamassima-Morton-Nance syndrome belongs to the heterogeneous group of spondylocostal dysostoses (SCD) represented by a large heterogeneous group in which diverse diagnoses, associations and modes of inheritance are found. Common features include segmentation abnormalities of the vertebrae and ribs. Here, we report on a fetal case with spondylocostal dysostosis, anal and genitourinary malformations and discuss Casamassima-Morton-Nance syndrome.

Référence

Eur J Med Genet. 2007 Jan-Feb;50(1):85-91