Femoral Hypoplasia with Unusual Facies Syndrome

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...

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Main Authors: Sreekanth R Shenoy, Dipankar Mondal, Manas Ranjan Upadhyay, Bhupendra Kumar Gupta, Jatadhari Mahar
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2017-08-01
Series:Journal of Clinical and Diagnostic Research
Subjects:
Online Access:https://jcdr.net/articles/PDF/10481/27632_CE[Ra]_F(Sh)_PF1(NE_MJ_GG)_PFA(NE_GG).pdf
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author Sreekanth R Shenoy
Dipankar Mondal
Manas Ranjan Upadhyay
Bhupendra Kumar Gupta
Jatadhari Mahar
author_facet Sreekanth R Shenoy
Dipankar Mondal
Manas Ranjan Upadhyay
Bhupendra Kumar Gupta
Jatadhari Mahar
author_sort Sreekanth R Shenoy
collection DOAJ
description 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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spelling doaj.art-652a1f434ba341faa67769089f796cc02022-12-22T01:18:36ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2017-08-01118SD03SD0410.7860/JCDR/2017/27632.10481Femoral Hypoplasia with Unusual Facies SyndromeSreekanth R Shenoy0Dipankar Mondal1Manas Ranjan Upadhyay2Bhupendra Kumar Gupta3Jatadhari Mahar4Junior Resident, Department of Paediatrics, SVPPGIP and SCB Medical College and Hospital, Cuttack, Odisha, India.Junior Resident, Department of Paediatrics, SVPPGIP and SCB Medical College and Hospital, Cuttack, Odisha, India.Assistant Professor, Department of Paediatrics, SVPPGIP and SCB Medical College and Hospital, Cuttack, Odisha, India.Junior Resident, Department of Paediatrics, SVPPGIP and SCB Medical College and Hospital, Cuttack, Odisha, India.Senior Resident, Department of Paediatrics, SVPPGIP and SCB Medical College and Hospital, Cuttack, Odisha, India.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.https://jcdr.net/articles/PDF/10481/27632_CE[Ra]_F(Sh)_PF1(NE_MJ_GG)_PFA(NE_GG).pdfcleft palatediabetesoligohydramniosshort limbs
spellingShingle Sreekanth R Shenoy
Dipankar Mondal
Manas Ranjan Upadhyay
Bhupendra Kumar Gupta
Jatadhari Mahar
Femoral Hypoplasia with Unusual Facies Syndrome
Journal of Clinical and Diagnostic Research
cleft palate
diabetes
oligohydramnios
short limbs
title Femoral Hypoplasia with Unusual Facies Syndrome
title_full Femoral Hypoplasia with Unusual Facies Syndrome
title_fullStr Femoral Hypoplasia with Unusual Facies Syndrome
title_full_unstemmed Femoral Hypoplasia with Unusual Facies Syndrome
title_short Femoral Hypoplasia with Unusual Facies Syndrome
title_sort femoral hypoplasia with unusual facies syndrome
topic cleft palate
diabetes
oligohydramnios
short limbs
url https://jcdr.net/articles/PDF/10481/27632_CE[Ra]_F(Sh)_PF1(NE_MJ_GG)_PFA(NE_GG).pdf
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AT bhupendrakumargupta femoralhypoplasiawithunusualfaciessyndrome
AT jatadharimahar femoralhypoplasiawithunusualfaciessyndrome