Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis

Am J Med Genet. 2002 Nov 1;112(4):394-6. doi: 10.1002/ajmg.10684.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Child, Preschool
  • Consanguinity
  • Dysostoses / congenital
  • Dysostoses / pathology
  • Female
  • Femur / abnormalities*
  • Hand Deformities, Congenital / pathology
  • Hip Dislocation, Congenital / pathology
  • Humans
  • Lower Extremity Deformities, Congenital / pathology
  • Pelvis / abnormalities*
  • Tibia / abnormalities*