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- Andy Wood, Lora Kleis, Helga Toriello, and Ayse Pinar Cemeroglu.
- Helen DeVos Childrens Hospital, Pediatric Endocrinology and Diabetes, Grand Rapids, MI 49503, USA.
- Indian Pediatr. 2011 May 1; 48 (5): 402-4.
AbstractA 16 year-old girl with pentasomy X mosaicism (47,XXX(1) 48,XXXX(12)/49,XXXXX) presented with primary amenorrhea. She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation and clinodactily. She was diagnosed with osteoporosis and premature ovarian failure.
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