Journal of Clinical and Diagnostic Research (Aug 2017)

Femoral Hypoplasia with Unusual Facies Syndrome

  • Sreekanth R Shenoy,
  • Dipankar Mondal,
  • Manas Ranjan Upadhyay,
  • Bhupendra Kumar Gupta,
  • Jatadhari Mahar

DOI
https://doi.org/10.7860/JCDR/2017/27632.10481
Journal volume & issue
Vol. 11, no. 8
pp. SD03 – SD04

Abstract

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Femoral facial syndrome is a rare clinical entity characterized by unilateral or bilateral femoral hypoplasia along with various malformations of face. Only few cases have been detected by antenatal ultrasonography so far. We present the case of one-dayold, male child, born to a primi gravida with oligohydramnios and severe growth restriction. The child had unusual facies with posterior cleft palate, non-communicating hydrocephalus and complete absences of left femur, hypoplasia of right femur, bilateral club foot and bilateral undescended testis.

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