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

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.

Prenatal diagnosis of femoral‐facial syndrome: Case report

“…Nuchal translucency in this case was normal, in agreement with published reports of FFS in which nuchal translucency was measured . This suggests that FFS is not associated with an increase in nuchal translucency.…”

“…However, this pregnancy was terminated soon after the diagnosis. The second case was reported by Nowaczyk et al at 12 weeks in a patient with type I DM; they noticed a shortened femur and micrognathia on the US . However, this report did not describe the prenatal ultrasonographic changes throughout the pregnancy.…”

“…The two principal characteristics of this syndrome, micrognathia and shortened femur, can be demonstrated by sonographic (US) imaging in the early stages of pregnancy. Despite this, it has rarely been reported in the first trimester . Early diagnosis is important, as this provides parents with the necessary information about the evolution and prognosis of patients with this syndrome.…”

Femoral Hypoplasia - Unusual Facies Syndrome, Presentation of Rare Case

“…Other malformations including skeletal defects and visceral abnormalities in cardiovascular and genitourinary systems may be found [9,10].…”

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“…Other malformations including skeletal defects and visceral abnormalities in cardiovascular and genitourinary systems may be found [9,10].…”