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Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis
André Mégarbané1, Ismat Ghanem
1Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon. megarbane@dm.net.lb
American Journal of Medical Genetics
|October 12, 2002
Abstract:
We report a 2-year-5-month-old girl with malformed lower limbs. The radiographic skeletal survey revealed agenesis of the ilio-pubic rami with pubic dehiscence, right hip dislocation, bilateral coxa vara, short femurs, femoro-tibial synchondrosis, bilateral hypoplastic tibiae more severe on the left side, and hypoplastic left calcaneus and talus. To the best of our knowledge, this combination of multiple congenital skeletal abnormalities has not been reported before.