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.

Keywords: barrett's esophagus (be); esophageal adenocarcinoma; esophageal stricture; esophagogastroduodenoscopy (egd); femoral facial syndrome (ffs); femoral hypoplasia with unusual facies syndrome (fhufs); gastroesophageal reflux disease (gerd).

Figure 1. Femoral Facial Syndrome in a 42-year-old Female

Asymmetric femoral hypoplasia with completely absent right femur and dislocated right fibula and tibia. Dextroscoliosis of thoracolumbar spine with posterior fusion fixation metal hardware. In addition, bilateral shortened upper extremities are evident with dislocated left radial head and left ulna open reduction internal fixation hardware.

Figure 2. CT Head Without Contrast: Facial Anomalies Evident in Femoral Facial Syndrome

(A) Sagittal view; illustrating micrognathia, very small mouth, and short nose. In addition, shortened neck and esophagus are also appreciated. (B) Axial view; surgically corrected cleft lip/palate.

Figure 3. Esophagogastroduodenoscopy

(A) Esophageal stricture (4mm x 5cm) located in middle third of the esophagus at 20cm. (B) Esophageal stricture being stretched during balloon dilation to allow further investigation of her upper gastrointestinal tract. (C) Esophageal stricture dilated to 13.5mm after balloon dilation. (D) Invasive esophageal adenocarcioma located in lower third of the esophagus at 25cm.