Case Report: Femoral hypoplasia — unusual facies syndrome

Abstract

ABSTRACT. A patient with the femoral hypoplasia — unusual facies syndrome (FH‐UFS), is presented. The features are quite striking and should be easily recognised at birth. Although rare, we are aware of 16 other patients in the literature and have reviewed their features. In addition to the facial features and short femora this patient had limited movement of the shoulders, small auditory canals with conductive deafness, gastro‐oesophageal reflux, and absence of the introitus vaginae. These additional abnormalities broaden the range of features reported in the FH‐UFS. Current evidence favours a new dominant mutation as a cause of this syndrome.

Autopsy, radiographic, and prenatal ultrasonographic examination of a stillborn fetus with femoral facial syndrome

“…Since then, the name femoral facial syndrome (FFS) has been proposed [Robinow et al, 1995]. Several authors have described the manifestations of this entity, including cleft palate, micrognathia, short nose with broad tip, elongated philtrum, short or absent femora, vertebral anomalies, and genitourinary anomalies [Lord and Beighton, 1981;Pitt et al, 1982;Burn et al, 1984]. The pathogenesis and inheritance of FFS are unknown, although an association with maternal diabetes is well documented [Grix, 1982;Tadmor et al, 1993].…”

Femoral Hypoplasia – Unusual Facies Syndrome: Prenatal Ultrasonographic Observations

“…Antenatal Diagnosis of FH-UFS Discussion FH-UFS includes bilateral femoral hypo plasia, facial dysmorphism with cleft palate, micrognathia, a long philtrum, a thin upper lip, and a short broad-tipped nose, dysplasia of the hips and hypoplasia of the fibulae [3,8], Other malformations may be present, includ ing skeletal defects and visceral abnormalities (especially cardiovascular and genitourinary) [9,10].…”

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

“…Other frequent findings include lumbar spine and pelvic abnormalities, the absence or hypoplasia of the fibulae, and clubfoot. The disorder is more common in females [Pitt et al, 1982], and all but 2 cases described have been sporadic. Many of the patients were infants of diabetic mothers [Johnson et al, 1983].…”

“…The femoral facial syndrome (FFS) (also known as the femoral hypoplasia-unusual facies syndrome [FH/ UFS]) was first described by Daentl et al [1975] and comprises hypoplasia of the femora, upslanting palpebral fissures, short nose with broad tip, flat philtrum, thin upper lip vermilion, cleft palate, and micrognathia [Daentl et al, 1975;Pitt et al, 1982;Johnson et al, 1983]. Other frequent findings include lumbar spine and pelvic abnormalities, the absence or hypoplasia of the fibulae, and clubfoot.…”