Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome.
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.
Rousseau
Thierry
T
Clinique Gynécologique et Obstétricale, Centre Hospitalier Universitaire, Dijon, France. thierry.rousseau@chu-dijon.fr
Laurent
Nicole
N
Thauvin-Robinet
Christel
C
Lionnais
Stéphanie
S
Durand
Christine
C
Faivre
Laurence
L
Sagot
Paul
P
D000015:Abnormalities, Multiple; D030321:Denys-Drash Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D005865:Gestational Age; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008297:Male; D016104:Oligohydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D013576:Syndactyly; D016216:Ultrasonography, Prenatal; D014513:Ureter / Q000002:abnormalities