Mitra Meenakshi, Muduli Jayant Kumar, Davis Greta L
Department of Paediatrics, IQ City Medical College and Hospital, Durgapur, West Bengal, India
Durgapur Cleft Centre, Operation Smile India, Durgapur, India.
BMJ Case Rep. 2025 Jun 24;18(6):e265447. doi: 10.1136/bcr-2025-265447.
Femoral-facial syndrome (FFS) is a rare disorder characterised by hypoplasia of the femur and unusual facies. We report a case with multiple skeletal malformations in the lumbosacral spine and pelvis, and an anteriorly placed ectopic right kidney in a case of FFS diagnosed clinically and radiographically in a toddler. We also highlight the challenges faced during nutritional rehabilitation prior to cleft palate surgery because of the lack of syndrome-specific growth charts.
股骨面部综合征(FFS)是一种罕见的疾病,其特征为股骨发育不全和特殊面容。我们报告了一例临床和影像学诊断为FFS的幼儿病例,该病例存在腰骶椎和骨盆的多处骨骼畸形,以及右肾异位至前方。我们还强调了由于缺乏特定综合征的生长图表,腭裂手术前营养康复过程中所面临的挑战。