Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases

American Journal of Medical Genetics. Part a
M J M NowaczykP T Mohide

Abstract

The objective of our article is to illustrate the earliest prenatal sonographic diagnosis of femoral-facial syndrome (FFS) and to illustrate the spectrum of clinical manifestations of this condition. We present serial sonographic evaluation with 3D evaluation in two fetuses diagnosed prenatally with FFS and the postnatal findings in three patients (one fetus following pregnancy interruption and two newborns one of whom was diagnosed prenatally) with FFS. The two patients with prenatally diagnosed FFS were found to have femoral shortening and characteristic facial features, one 12 weeks of gestation, and one at 15 weeks of gestation. The sonographic findings in the two prenatally diagnosed patients were confirmed after delivery. We also present a third patient who was diagnosed at delivery in whom the diagnosis was missed at a routine prenatal sonogram at 19 weeks of gestation. The patients reported herein expand the clinical spectrum of FFS. The utility of sonographic evaluation in diagnosis of the facial appearance and of the bony abnormalities in this condition is emphasized.

References

Oct 1, 1984·Journal of Medical Genetics·J BurnJ Fixsen
Jul 3, 1995·American Journal of Medical Genetics·M RobinowA Veghte
Jul 1, 1993·Fetal Diagnosis and Therapy·O P TadmorY Z Diamant
Oct 1, 1996·American Journal of Perinatology·R M HinsonC J Macri
Jun 1, 1997·Journal of Medical Genetics·Y GillerotL Van Maldergem
Oct 23, 1997·American Journal of Medical Genetics·F Campbell, G M Vujanić
Oct 23, 2004·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Anthony L FillyRoy A Filly
Aug 3, 2007·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·D PaladiniP Martinelli
Nov 4, 2008·Clinical Dysmorphology·Allen L HoLynne M Bird
Jun 3, 2009·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Cecilia FigueroaJose A García-Hernández

❮ Previous
Next ❯

Citations

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
Nov 18, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Si Ling PangYiu Yan Leung

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
D PaladiniP Martinelli
Anales españoles de pediatría
F Rivas Crespo
American Journal of Medical Genetics
J M OpitzV L Smith
© 2021 Meta ULC. All rights reserved