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Femoral Hypoplasia with Unusual Facies Syndrome.
J Clin Diagn Res. 2017 Aug; 11(8):SD03-SD04.JC

Abstract

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.

Authors+Show Affiliations

Junior 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.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

28969231

Citation

Shenoy, Sreekanth R., et al. "Femoral Hypoplasia With Unusual Facies Syndrome." Journal of Clinical and Diagnostic Research : JCDR, vol. 11, no. 8, 2017, pp. SD03-SD04.
Shenoy SR, Mondal D, Upadhyay MR, et al. Femoral Hypoplasia with Unusual Facies Syndrome. J Clin Diagn Res. 2017;11(8):SD03-SD04.
Shenoy, S. R., Mondal, D., Upadhyay, M. R., Gupta, B. K., & Mahar, J. (2017). Femoral Hypoplasia with Unusual Facies Syndrome. Journal of Clinical and Diagnostic Research : JCDR, 11(8), SD03-SD04. https://doi.org/10.7860/JCDR/2017/27632.10481
Shenoy SR, et al. Femoral Hypoplasia With Unusual Facies Syndrome. J Clin Diagn Res. 2017;11(8):SD03-SD04. PubMed PMID: 28969231.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Femoral Hypoplasia with Unusual Facies Syndrome. AU - Shenoy,Sreekanth R, AU - Mondal,Dipankar, AU - Upadhyay,Manas Ranjan, AU - Gupta,Bhupendra Kumar, AU - Mahar,Jatadhari, Y1 - 2017/08/01/ PY - 2017/02/16/received PY - 2017/06/21/accepted PY - 2017/10/4/entrez PY - 2017/10/4/pubmed PY - 2017/10/4/medline KW - Cleft palate KW - Diabetes KW - Oligohydramnios KW - Short limbs SP - SD03 EP - SD04 JF - Journal of clinical and diagnostic research : JCDR JO - J Clin Diagn Res VL - 11 IS - 8 N2 - 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. SN - 2249-782X UR - https://www.unboundmedicine.com/medline/citation/28969231/Femoral_Hypoplasia_with_Unusual_Facies_Syndrome L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/28969231/ DB - PRIME DP - Unbound Medicine ER -
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