Femoral-facial syndrome: Report of 2 fetal cases
Femoral-facial syndrome (FFS) is a congenital disorder, characterized by facial dysmorphism and femoral hypoplasia. This article describes the prenatal ultrasound and autopsy findings of FFS in 2 female fetuses born to diabetic mothers.

Prenatal ultrasound showed micrognathia, low-set dysplastic ears and very short femora. Autopsy also demonstrated cleft palate, hypoplastic genitalia and visceral malformations including interventricular communication and posthemorrhagic hydrocephalus. Histologic study showed hyperplasia of the islets of Langerhans and femoral cartilage abnormalities. The growth plate displayed poor columnar organization of the growth plate with small zones of chondrocyte hypertrophy.

The etiology of this rare syndrome has remained uncertain since the first description in 1975. The scarcity, sporadic occurrence, and the phenotypic heterogeneity of this syndrome prevent phenotypic and genetic correlations. The full syndrome may represent the most severe expression of a malformation complex with isolated femoral hypoplasia as the mildest manifestation.

Source: Radiology case reports

Read more: https://www.sciencedirect.com/science/article/pii/S1930043319300159?dgcid=rss_sd_all
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