A case of femoral-facial syndrome in a newborn of a Malay diabetic mother: Lessons for primary care

Femoral-facial syndrome (FFS) is a rare congenital disorder characterized by femoral hypoplasia and distinctive craniofacial anomalies, and it is frequently associated with maternal diabetes. We report the first documented Malaysian case of FFS in a neonate born to a 36-year-old Malay woman with gestational diabetes and obesity. Early antenatal ultrasound examinations did not detect any abnormalities. Fetal anomalies only became evident later in pregnancy when breech presentation and anhydramnios were noted, highlighting the difficulty of early prenatal diagnosis, particularly among high-risk mothers. A female infant was delivered via caesarean section at 35 weeks’ gestation. She exhibited multiple dysmorphic features, including micrognathia, cleft palate, low-set ears, absence of the femur, hemivertebrae, and polydactyly. Despite multidisciplinary neonatal management, the infant died at two months of age due to severe nosocomial infection.