Diagnosis of femoral hypoplasia–unusual facies syndrome in the fetus

Abstract

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

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

“…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].…”

“…Other anomalies such as ear defects or malformations involving the upper limbs, ribs, vertebrae, lower limbs or genitourinary tract, may also be observed. Severe malformations of the central nervous system, such as brain heterotopia, agenesis of the corpus callosum and ventriculomegaly, have also been reported [1,3].…”

“…Although the specific etiology of this condition is unknown, contributing factors have been identified such as: maternal insulin-dependent diabetes [3], exposure to drugs (thalidomide), viral infections, radiation and focal ischemia or trauma [1,2] as well as severe fetal constraint secondary to oligohydramnios [4]. Robinow et al reported the occurrence of this syndrome in four generations of a family with an apparently male-to-male transmission pattern [5].…”

Prenatal Three-Dimensional Images of Proximal Focal Femoral Deficiency Produced by Helical Computed Tomography

“…If the upper extremities are normal, insofar as the ulna and radius are concerned, femur-fibula-ulna syndrome can be easily excluded. Although the majority of published reports of femoral-facial syndrome diagnose the syndrome at autopsy, with only a focal defect being noted prenatally [12,15] , we are able to assess the integrity of the fetal face through sonographic examination. There were no associated facial abnormalities, including facial clefting and minor malformations of the face that would have led us to consider a diagnosis of femoral-facial syndrome.…”

Ultrasonic Diagnosis of Fetal Bone and Small Parts

“…The association with maternal diabetes mellitus and a disruption of carbohydrate homeostasis are reported. Sonographic findings are short and bowed femurs (unilateral or bilateral), absence of fibulae dysplasia of the sacrum, short broad-tipped nose, long philtrum, thin upper lip, micrognathia and cleft palate, and other associated anomalies 68 (Figs 11A to F).…”