FEMORAL-FACIAL SYNDROME IN A 4-YEAR-7-MONTH-OLD BOY BORN TO A MOTHER WITH DIABETES MELLITUS: A CASE REPORT FROM TANZANIA

Background: Femoral-facial syndrome (FFS), also known as femoral hypoplasia–unusual facies syndrome, is a rare congenital multiple-anomaly syndrome characterized principally by femoral hypoplasia or agenesis and a distinctive facial phenotype. The condition has a well-described association with maternal diabetes mellitus, although its precise pathogenesis remains uncertain.
Case presentation: We report a 4-year-7-month-old boy from Tanzania who presented with a markedly shortened right lower limb that had been present since birth. His mother had a history of diabetes mellitus during pregnancy. Clinical examination demonstrated complete right femoral agenesis with marked right lower-limb shortening, facial dysmorphism characterized by micrognathia and a long philtrum, cleft palate, umbilical hernia, and left inguinal hernia. Plain radiographs demonstrated absence of the right femur, with the right tibia and fibula articulating at the acetabular region. Abdominal ultrasonography demonstrated a solitary right kidney and absence of the left kidney, while echocardiography was normal. Genetic testing was not performed because of limited resources. The child experienced significant feeding difficulty associated with the cleft palate and had poor weight gain, with body weight remaining between 6 and 7 kg from approximately 1 year to 1 year 8 months of age. Following cleft palate repair, his feeding and weight gain improved. At the most recent assessment, his body weight was 13 kg. Cleft palate repair and subsequent inguinal hernia repair were performed at Mnazi Mmoja Hospital, Zanzibar. Orthopaedic follow-up was arranged at Tumbi Regional Referral Hospital, with plans for orthoprosthetic management of the severe limb-length discrepancy.
Conclusion: This case illustrates the characteristic phenotype and multisystem involvement of femoral-facial syndrome in a child born to a mother with diabetes mellitus. The presence of femoral agenesis, characteristic facial features, cleft palate, abdominal wall defects, and unilateral renal agenesis highlights the importance of comprehensive evaluation for associated congenital anomalies. Early multidisciplinary management involving paediatrics, orthopaedics, orthotics and prosthetics, surgery services, and rehabilitation is important for optimizing functional and developmental outcomes.