Prenatal diagnosis of femoral–facial syndrome: Report of two cases. Issue 12 (19th November 2013)

• Record Type: Journal Article
• Authors: Silvas, Emil; Rypens, Françoise; Jovanovic, Mubina; Delezoide, Anne‐Lise; Patey, Natalie
• Is Part Of: Birth defects research. Volume 97:Issue 12(2013:Dec.)
• Page Start: 770
• Page End: 773
• Publication Date: 2013-11-19
• Subjects: Teratology -- Periodicals; Abnormalities, Human -- Research -- Periodicals; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1002/bdra.23201
• Languages: English
• ISSNs: 1542-0752

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="bdra23201-sec-0001" sec-type="section"> <title>BACKGROUND</title> <p>Femoral–facial syndrome (FFS), also known as femoral hypoplasia–unusual facial syndrome (FHUFS) is a rare disorder, which has been more frequently described in females. Only a few cases diagnosed prenatally have been reported so far in the literature. FFS is characterized by femoral hypoplasia and various facial abnormalities, which can be associated with a variety of other malformations</p> </sec> <sec id="bdra23201-sec-0002" sec-type="section"> <title>CASES</title> <p>In this report, we present two male fetuses which were diagnosed with FFS after detection of short femora, micrognathia, and other anomalies by ultrasonography at the age of 14 and 16 weeks, respectively. The sonographic findings were confirmed at autopsy. The differential diagnosis of FFS with other disorders characterized by hypoplastic femora is discussed</p> </sec> <sec id="bdra23201-sec-0003" sec-type="section"> <title>CONCLUSION</title> <p>FFS represents a severe condition; hence, the importance of an early prenatal diagnosis, especially in light of offering counseling for affected parents. <italic>Birth Defects Research (Part A), 97:770–773, 2013</italic>. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>