Femoral hypoplasia- Unusual Facies Syndrome or Femoral Facial Syndrome with Radioulnar Synostosis

Introduction: The femoral hypoplasia- unusual facies syndrome (FH/ UFS); also known as femoral facial syndrome (FFS) encompasses a spectrum of anomalies that include bilateral femoral hypoplasia and craniofacial dysmorphism with cleft palate, thin upper lip, micrognathia, flat philtrum, short nose with broad tip and upslanting palpebral fissure.1,2 Other frequent findings include hypoplasia of fibulae, club foot, lumbar spine and pelvic anomalies. Systemic anomalies like cardiovascular and genitourinary anomalies may be associated with limb defects. This disorder was first discovered by Daentt et al3 in 1975 and is more common in females.1 The femoral hypoplasia- unusual facies syndrome is a rarely considered clinical entity that has a strong association with maternal diabetes.4 Etiopathogenesis of the syndrome remains unknown5. Majority of the cases described have been sporadic. We describe here a case with (FH/UFS)- a rare finding like distal radioulnar synostosis and separation of proximal ends of radius and ulna.

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