Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome | Zendy

Rousseau Thierry | Zendy; Laurent Nicole | Zendy; ThauvinRobinet Christel | Zendy; Lionnais Stéphanie | Zendy; Durand Christine | Zendy; Faivre Laurence | Zendy; Sagot Paul | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Author(s) -

Rousseau Thierry,

Laurent Nicole,

ThauvinRobinet Christel,

Lionnais Stéphanie,

Durand Christine,

Faivre Laurence,

Sagot Paul

Publication year - 2002

Publication title -

prenatal diagnosis

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.956

H-Index - 97

eISSN - 1097-0223

pISSN - 0197-3851

DOI - 10.1002/pd.381

Subject(s) - syndactyly , variable expression , prenatal diagnosis , autopsy , medicine , autosomal recessive inheritance , sex organ , pediatrics , pathology , pregnancy , genetics , biology , anatomy , fetus , gene

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non‐consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research