Fraser syndrome.
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.
Chattopadhyay
A
A
Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.
Kher
A S
AS
Udwadia
A D
AD
Sharma
S V
SV
Bharucha
B A
BA
Nicholson
A D
AD
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