Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis.
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.
Mégarbané
André
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon. megarbane@dm.net.lb
Ghanem
Ismat
I
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D003241:Consanguinity; D004413:Dysostoses / Q000151:congenital / Q000473:pathology; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000473:pathology; D006618:Hip Dislocation, Congenital / Q000473:pathology; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000473:pathology; D010388:Pelvis / Q000002:abnormalities*; D013977:Tibia / Q000002:abnormalities*