48, XXXX syndrome in a fourteen year old girl
Lejeune, J.; Abonyi, D.
Annales de Genetique 11(2): 117-119
1968
ISSN/ISBN: 0003-3995 PMID: 5303423 Document Number: 4903
The phenotype of the 48,XXXX syndrome is studied in a 14 years old girl. Main symptoms are : - Mental retardation, tallness and peculiar face with moderate hypertelorism, arched superior eye lid and discrete retraction of the middle-face, vaguely reminiscent of trisomy 21. - A narrowness of the deltoid portion of the shoulders with a menopausal type of fat distribution are also noted.
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