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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.