title: Fraser syndrome.
abstract: Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.
authors.affiliation: Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.
authors.forename: A
authors.initials: A
authors.lastname: Chattopadhyay
authors.forename: A S
authors.initials: AS
authors.lastname: Kher
authors.forename: A D
authors.initials: AD
authors.lastname: Udwadia
authors.forename: S V
authors.initials: SV
authors.lastname: Sharma
authors.forename: B A
authors.initials: BA
authors.lastname: Bharucha
authors.forename: A D
authors.initials: AD
authors.lastname: Nicholson
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology; D005124:Eye Abnormalities / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D012886:Skull / Q000002:abnormalities*; D013576:Syndactyly / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D013577:Syndrome