title: Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome.
abstract: 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.
authors.affiliation: Clinique Gynécologique et Obstétricale, Centre Hospitalier Universitaire, Dijon, France. thierry.rousseau@chu-dijon.fr
authors.forename: Thierry
authors.initials: T
authors.lastname: Rousseau
authors.forename: Nicole
authors.initials: N
authors.lastname: Laurent
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Lionnais
authors.forename: Christine
authors.initials: C
authors.lastname: Durand
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Paul
authors.initials: P
authors.lastname: Sagot
mesh_terms: 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