Prenatal diagnosis and tridimensional ultrasound features of bilateral femoral hypoplasia – Unusual facies syndrome

Figueroa, Cecilia; Plasencia, W.; Eguiluz, I.; Luis, Maria De; Barber, M.A.; Valle, Leonor; García-Hernández, José Ángel

doi:10.1080/14767050902994606

Cited by 6 publications

(3 citation statements)

References 8 publications

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“…NT measurement was normal in the two FFS patients with NT measurement reported in the literature [Patient 3, Paladini et al, 2007; Figureoa et al, 2009]. Our three patients had normal NT measurements at 12–13 weeks gestation suggesting that, unlike many other skeletal syndromes, FFS is not associated with increased NT.…”

Section: Discussionsupporting

confidence: 62%

“…Prenatal findings in facial femoral syndrome have been reported in 12 patients [Tadmor et al, 1993; Robinow et al, 1995; Hinson et al, 1996; Campbell and Vujanic, 1997; Gillerot et al, 1997; Urban et al, 1997; Filly et al, 2004; Paladini et al, 2007; Ho et al, 2008; Figureoa et al, 2009] in whom femoral hypoplasia varied from minimal shortening with minimal bowing to complete femoral agenesis. Characteristic facial findings were observed after delivery.…”

Section: Introductionmentioning

confidence: 99%

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

Nowaczyk

Huggins

Fleming

et al. 2010

American J of Med Genetics Pt A

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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.

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Section: Discussionsupporting

confidence: 62%

Section: Introductionmentioning

confidence: 99%

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

Nowaczyk

Huggins

Fleming

et al. 2010

American J of Med Genetics Pt A

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“…13 Nuchal translucency in this case was normal, in agreement with published reports of FFS in which nuchal translucency was measured. 1,2,14 This suggests that FFS is not associated with an increase in nuchal translucency.…”

Section: Discussionmentioning

confidence: 97%

Prenatal diagnosis of femoral‐facial syndrome: Case report

Castro¹,

Peraza²,

Zapata³

2013

J of Clinical Ultrasound

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Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral shortening of the femur in the fetus of a patient with DM. The sonographic evolution from the first trimester until birth is described. The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed.

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Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

Luisin

Chevreau

Klein

et al. 2017

American J of Med Genetics Pt A

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Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia-unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations. Through these 92 cases, authors aimed to determine sonographic signs that should direct towards diagnosis, and discuss potential genetic etiology. Diagnosis was suspected prenatally in 27.2% of cases, and maternal diabetes was found in 42.4% of patients. When fetal karyotype was available, it was normal in 97.1% of cases, but genomic variations of unknown significance were discovered in all three cases in which array comparative genomic hybridization (CGH) techniques were applied. Femoral affection defining FFS was hypoplasia in 78.3% of cases, agenesis in 12%, and both in 9.8%. Affection was bilateral in 84.8% of cases. Retrognathia was present in 65.2% of cases, cleft lip and/or palate in 63%, and other organ malformations in 53.3%. Intellectual development was normal in 79.2% of cases. Better prenatal recognition of this pathology, notably frequently associated malformations, should lead to a more precise estimation of functional prognosis. It seems likely that today's tendency to systematically employ array-CGH and exome/genome sequencing methods to investigate malformative sequences will allow the identification of a causal genetic abnormality in the near future.

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Prenatal diagnosis and tridimensional ultrasound features of bilateral femoral hypoplasia – Unusual facies syndrome

Cited by 6 publications

References 8 publications

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

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

Prenatal diagnosis of femoral‐facial syndrome: Case report

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

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