(27) Feeding Challenges in a Neonate with Freeman-Sheldon Syndrome: A Case Report

Background:

Introduction: Freeman-Sheldon syndrome (FSS) is a severe variant of distal arthrogryposis, characterized by joint contractures and distinctive facial dysmorphism. First described in 1938 by Freeman and Sheldon, there are only 100 cases documented in medical literature to date. Symptoms encompass microstomia, facial bone flattening, hypertelorism, finger contractures, ulnar deviation of the hands, and bilateral talipes equinovarus. Initially named Whistling Face syndrome by Burian et al. due to microstomia and a scar-like mark extending from the lower lip to the chin, the presence of feeding challenges is mainly attributed to craniofacial abnormalities and muscle contractures. Research has pinpointed MYH3 gene mutation as a culprit, a crucial component of muscle fiber.

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Results:

Case: We present a case of a 35-week female born via Cesarean section due to breech, anhydramnios, and fetal growth restriction. The infant was admitted to the Neonatal Intensive Care Unit for prematurity, low birth weight, and monitoring of neonatal abstinence syndrome. The mother, with limited prenatal care, had a history of substance abuse during pregnancy. Physical examination revealed retrognathia, micrognathia, low set posteriorly rotated ears, a cleft soft palate, along with limited hip abduction, extension, and external rotation. Unable to tolerate oral feeds, the patient underwent endoscopic evaluation by speech-language pathology (SLP) who recommended nasogastric tube feedings. Genetic analysis yielded negative results for chromosomal abnormalities. A barium swallow study exhibited retrognathia causing tongue displacement during swallowing, leading to discomfort, gagging, and signs of distress in the infant. Genetics consult suggested a possible diagnosis of FSS due to classical phenotypic features. Owing to the severity of oral aversion, SLP recommended gastrostomy tube insertion, which was successfully placed.

Conclusion:

Discussion: FSS diagnosis heavily relies on clinical criteria due to the limited availability of genetic testing. Feeding challenges are prevalent in FSS infants because of craniofacial deformities leading to diminished sucking and swallowing abilities. Multidisciplinary care, including surgical interventions for feeding and respiratory issues, is paramount. Due to the possibility of concerns such as malignant hyperthermia, evaluation by anesthesia is a must. Given the inherent abnormal muscle physiology, surgical interventions require careful consideration to minimize risks and optimize outcomes.