First Reported Case of Femoral Facial Syndrome in an Adult: Esophageal Adenocarcinoma as a Progressive Gastrointestinal Manifestation

Abstract

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.

Anesthetic considerations in an infant with femoral hypoplasia‐unusual facies syndrome and Pierre Robin sequence: A case report

“…Patients with FHUFS have malformations that affect multiple organ systems. 5 Physical features identified in infants with FHUFS include lumbar spine and pelvic abnormalities, absence or hypoplasia of the fibulae, clubfeet, radioulnar joint anomalies, and genitourinary anomalies such as cryptorchidism, polycystic or absent kidneys, absent uterus and vagina with normal ovaries, and microphallus. 1 , 7 Bilobed lungs and various cardiovascular effects such as ventriculoseptal defect, pulmonary stenosis, and truncus arteriousus exist in neonates with FHUFS.…”

“…A recent case report discussed a 42‐year‐old patient with FHUFS who underwent an upper endoscopy procedure. These patients can present to the operating room well into adulthood 5 . Due to the rarity of the syndrome, an anesthesia provider is unlikely to encounter a patient with FHUFS on a routine basis.…”

“…These patients can present to the operating room well into adulthood. 5 Due to the rarity of the syndrome, an anesthesia provider is unlikely to encounter a patient with FHUFS on a routine basis. However, detailed anesthesia management is seemingly absent from the literature surrounding the care of a patient with FHUFS.…”