Open AccessFemoral Hypoplasia with Unusual Facies Syndrome
Author(s) -
Sreekanth R Shenoy,
Dodul Mondal,
Manas Ranjan Upadhyay,
Bhupendra Gupta,
Jatadhari Mahar
Publication year - 2017
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2017/27632.10481
Subject(s) - medicine , oligohydramnios , hypoplasia , femur , anatomy , crouzon syndrome , surgery , pregnancy , gestation , craniosynostosis , genetics , biology
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-day-old, 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.