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.

Femoral-facial syndrome is a very rare condition that occurs sporadically. Few cases have been linked to maternal diabetes and genetic origin. We report a case of a preterm infant. A 1-day-old Black Bantu African female baby was admitted to the neonatal unit owing to multiple congenital anomalies. The mother did not seek any medical attention until her early third trimester when she had an abruptio placenta. The mother has never received antenatal folic acid supplementation. The baby had microcephaly, low-set ears, right cleft palate and lip, micrognathia, contracture, and shorter limbs. A skeletal X-ray showed femoral hypoplasia. We report this rare case and highlight the challenges in diagnosis and treatment. This is an unfortunate occurrence. Early antenatal folic acid supplementation may have averted this. An early antenatal anomaly scan and investigation after abruptio placenta would have shown the futility of the case, and intervention could have been done sooner rather than later.

Femoral hypoplasia-unusual facies syndrome is a rare condition of unknown etiology. The phenotype consists of significant femoral hypoplasia with characteristic facial malformations that often overlap with findings seen in patients with Pierre Robin sequence. Anesthesia providers must prepare for difficult intravenous access, difficult airway management, and uncertainties with regional anesthesia. Femoral hypoplasia-unusual facies syndrome (FHUFS) or femoral facial syndrome is a rare and sporadic condition of unknown etiology. The phenotype consists of significant femoral hypoplasia with characteristic facial malformations that often overlap with findings seen in patients with Pierre Robin sequence. FHUFS is known to cause challenges with anesthesia, including difficulty with endotracheal intubation. Anesthesia providers must be aware of the possible coexistence of FHUFS and Pierre Robin sequence. They need to prepare for difficult intravenous access, difficult airway management, and uncertainties with regional anesthesia.

Femoral facial syndrome (FFS) is a rare condition which may present with hypoplasia or aplasia of the femora and unusual facies characterized by long philtrum, thin upper lip and micrognathia. We present the case of a ten-month old infant with FFS who had retroglossal obstruction and who was treated with a pre-epiglottic baton plate. The pre-epiglottic baton plate can be a simple, non-invasive and effective tool for the clinical management of syndromic patients with mild-to-moderate upper airway obstruction due to micrognathia.

A 42-year-old female with a past medical history of femoral facial syndrome (FFS) and years of gastroesophageal reflux disease presented to our clinic with symptoms of dysphagia and iron deficiency anemia. On upper endoscopy, esophageal stricture and adenocarcinoma were detected. Unfortunately, the patient developed coronavirus disease 2019 (COVID-19) multi-organ failure prior to cancer treatment and died with dignity after choosing comfort care measures. To the best of our knowledge, we report the first case of FFS in an adult patient. This case also uniquely highlights the rare gastrointestinal manifestations of FFS.