Bilateral femoral agenesis in femoral facial syndrome in a 19-week-old fetus

Campbell, Fiona; Vujanić, Gordan

doi:10.1002/(sici)1096-8628(19971031)72:3<315::aid-ajmg12>3.0.co;2-w

Cited by 15 publications

(6 citation statements)

References 21 publications

(25 reference statements)

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“…Prenatal ultrasound diagnosis of FHUFS is feasible given that its most consistently reported findings, namely femoral hypoplasia and major facial anomalies, can be recognized in utero . However, a prospective diagnosis of FHUFS, based upon the concurrent detection of femoral and facial anomalies, has been reported in very few cases4, 5; in most published reports the diagnosis was made at autopsy following prenatal diagnosis of the focal femoral defect only (Table 1)3, 6–8. This is probably because prenatal recognition of the femoral defect, unlike facial anomalies, is relatively straightforward on ultrasound examination.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of femoral hypoplasia–unusual facies syndrome in the fetus

Paladini¹,

Maruotti²,

Sglavo³

et al. 2007

Ultrasound in Obstet & Gyne

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Femoral hypoplasia-unusual CASE REPORTS Case 1A 30-year-old primigravida was referred to our unit at 21 weeks' gestation because of a suspicion of severe bilateral femoral hypoplasia in her male fetus. The family history was negative for congenital anomalies. The patient did not have insulin-dependent diabetes mellitus. Ultrasound examination showed fetal biometry consistent with a gestational age of 21 weeks, with the exception of the femora, which appeared severely hypoplastic. The left femur was completely absent whereas the right one measured only a few millimeters (Figure 1a and b). Ultrasound imaging of the fetal face revealed the presence of unilateral right cleft lip and palate (Figure 1d). Unilateral right renal agenesis was also observed. In the counseling session, the couple was informed of the putative diagnosis and outcome of femoral hypoplasia-unusual facies syndrome (FHUFS), and the possible management options.After counseling, the couple opted for termination of the pregnancy. The diagnosis of FHUFS was confirmed at autopsy. In particular, severe bilateral and asymmetric femoral hypoplasia (Figure 1c), unilateral cleft lip/palate ( Figure 1e) and unilateral renal agenesis were found. In addition, the face showed the typical features of FHUFS: a long philtrum, thin upper lip, moderate micrognathia and low-set ears (Figure 1e). Other features consistent with the diagnosis of FHUFS found at autopsy included a short neck and a pelvis with vertically orientated iliac blades. Case 2A 28-year-old obese woman (gravida 2, para 1) with insulin-dependent diabetes mellitus was referred to our unit at 21 weeks' gestation because of an abnormal second-trimester anomaly scan. The family history was unremarkable, with no consanguinity reported. On ultrasound examination, severe hypoplasia of the left femur was observed (Figure 2a), whereas the contralateral femoral shaft appeared unremarkable, with length in the normal range 1 . Examination of the fetal face revealed severe micrognathia (Figure 2c) and the ears appeared low set. No other abnormalities were observed. A diagnosis of FHUFS was made. After counseling, the couple opted for termination of the pregnancy. At autopsy, severe unilateral hypoplasia of the left femur, severe micrognathia and low-set ears were confirmed (Figure 2b and d). Also noted were a short nose with a broad tip, a thin upper lip and a cleft palate (Figure 2d, inset), confirming the diagnosis of FHUFS. Case 3A 24-year-old primigravida was referred to our unit at 13 weeks' gestation after the detection of abnormal lower limbs at the nuchal translucency scan. There was no

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Section: Discussionmentioning

confidence: 99%

Diagnosis of femoral hypoplasia–unusual facies syndrome in the fetus

Paladini¹,

Maruotti²,

Sglavo³

et al. 2007

Ultrasound in Obstet & Gyne

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“…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%

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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“…Robinow et al reported the occurrence of this syndrome in four generations of a family with an apparently male-to-male transmission pattern [5]. Nevertheless, most of the described cases occurred sporadically [3,4,6].…”

Section: Introductionmentioning

confidence: 99%

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

Figueroa

Plasencia

Eguiluz

et al. 2009

The Journal of Maternal-Fetal & Neonatal Medicine

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The femoral hypoplasia - unusual facies syndrome is a rare disorder, which was described first three decades ago. It is characterised by the occurrence of short femurs with certain associated alterations mainly affecting the face, of which micrognathia is the most frequently found. Although the etiology of this condition is unknown, clear relationship with maternal insulin-dependent diabetes has often been reported, which suggests some sort of inherited component. Nevertheless, most cases occur sporadically. This entity is usually diagnosed after birth because prenatal ultrasound detection is rather difficult. Here, we report a case of prospective detection. So far, such cases have been seldom described in the literature.

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Bilateral femoral agenesis in femoral facial syndrome in a 19-week-old fetus

Cited by 15 publications

References 21 publications

Diagnosis of femoral hypoplasia–unusual facies syndrome in the fetus

Diagnosis of femoral hypoplasia–unusual facies syndrome in the fetus

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

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

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