Digital Scholarship and Initiatives

This article discusses a case of King Syndrome (which the authors define as ". . . dysmorphic features including craniofacial and skeletal anomalies, myopathy, and a predisposition to malignant hyperthermia" (p. 1146)) in a young, pregnant Lumbee woman. She had had, from birth, a cleft palate, ptosis, and muscle weakness. Her first cousin had Noonan Syndrome (a condition similar to King Syndrome), and three relatives had a history of malignant hyperthermia. She had had respiratory failure three years before her pregnancy and had a gastrostomy tube inserted, which she used for a year. Afterwards, she had pneumonia frequently and used a ventilator at night.

She was admitted to the hospital 34 weeks into her pregnancy because an ultrasound revealed intrauterine growth restriction. Doctors feared the growth restriction might, later in the pregnancy, cause respiratory deterioration. The infant was delivered prematurely; it showed no dysmorphic features and had no postpartum respiratory problems.

The authors note that "There is no diagnostic test available for King Syndrome or Native American myopathy. The diagnosis relies on obtaining a personal or family history of malignant hyperthermia in the setting of the characteristic clinical features" (p. 1148).