PMID: 9192278Jun 1, 1997Paper

Lethal femoral-facial syndrome: a case with unusual manifestations

Journal of Medical Genetics
Y GillerotL Van Maldergem

Abstract

The femoral-facial syndrome is a very rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and a peculiar facies. We report an additional observation detected by ultrasound at 25 weeks and diagnosed at birth. In addition to the malformations usually described in this syndrome, there were heterotopias of the brain, partial agenesis of the corpus callosum, bilobed lungs, intestinal malrotation, and vertebral segmentation defects.

References

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Citations

Nov 4, 2008·Clinical Dysmorphology·Allen L HoLynne M Bird
May 18, 1999·Archives of Disease in Childhood·J H WalterJ V Leonard
Jul 17, 2010·American Journal of Medical Genetics. Part a·M J M NowaczykP T Mohide
Nov 21, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Emil SilvasNatalie Patey
Jan 18, 2013·Journal of Clinical Ultrasound : JCU·Simon CastroMarco Zapata
Sep 28, 2017·American Journal of Medical Genetics. Part a·Marion LuisinGilles Morin
Aug 3, 2018·American Journal of Medical Genetics. Part a·Maria Dora Jazmin Lacarrubba-FloresDenise Pontes Cavalcanti
Aug 3, 2007·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·D PaladiniP Martinelli
Sep 2, 2015·Journal of Biomolecular Structure & Dynamics·Govindarajan Prasanna, N T Saraswathi
Jul 6, 2021·Case Reports in Orthopedics·Abdullah GhaliAnil Dutta
Nov 18, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Si Ling PangYiu Yan Leung

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