Femoral hypoplasia-unusual facies syndrome: a rare clinical entity

Femoral hypoplasia-unusual facies syndrome (FH-UFS) is a disorder with multisystem involvement comprising predominantly of craniofacial dysmorphism with bilateral hypoplastic femurs. The exact etiology of this disorder is unknown, however maternal infections, drug and radiation exposure, oligohydramnios has been implicated. In affected children born to non-diabetic mothers, a genetic contribution is suspected; however, no chromosomal or gene mutations have been identified so far. The syndrome closely resembles with caudal dysplasia or syringomyelia which occur due to insufficient mesoderm in the caudal part of the embryo leading to lumbosacral defects, renal agenesis, and dysplastic lower limbs, however they lack craniofacial dysmorphism. The pathogenesis of FH-UFS involves poor development of subtrochanteric portion of the femoral cartilage. This results in shortening of proximal femur. Maternal diabetes justifies the teratogenic effect of hyperglycemia and ketones on fetus leading to dysmorphic features in fetus. Here, we are reporting a female neonate with characteristic phenotypic features of FH-UFS. She had cleft lip and palate, low set ears, retrognathia and micrognathia, dolichocephaly with bilateral femoral hypoplasia with talipes deformity of both feet. Karyotype was normal (46XX). Renal and cranial ultrasounds were normal. The 2D Echo revealed small 0.3mm PDA.

Surgical Treatment of Craniosynostosis

Authors made a clinical analysis on 22 patients of craniosynostosis who had been treated surgically at Severance Hospital from Jan. 1975 to Jun. 1983 and the results were summarized as follows. 1) In analysis of type of craniosynostosis, all of patient showed synostosis of coronal suture : 7 cases had simple involvement of coronal suture, 14 cases had multiple suture involvement and 1 Crouzen's disease. 2) In sex distribution, male were 13 and female were 9 cases. Patient who had been on early operation within 6 months after birth were 6 cases(27%). 3) The most common clinical symptoms on admission were mental and developmental retardation and most patient showed palpable ridge along the suture of synostosis. 4) In brain CT scan finding, ventricular dilatation, cortical atrophy, low density areas and subdural effusion were commonly found in cases who diagnosis and operation were delayed. These findings were thought to be the secondary effect of increased intracranial pressure in early stage of craniosynostosis. 5) Among several operative methods, lateral canthal advancement of supraorbital margin showed good surgical results to provide adequate expansion of frontal bone. Early operation also revealed good results. 6) To make an early detection of craniosynostosis it will be necessary to give pediatricians and general practitioners more information about this disease.