Pursuit of a diagnosis for severe skeletal dysplasia: Case of a compound MYH3 VUS heterozygote after negative exome sequencing

The patient is a 36 6/7 week female born with multiple congenital anomalies and respiratory failure requiring intubation. Multiple medical interventions to maintain her critical airway were attempted, but due to patient’s anatomical constraints, a tracheostomy was not feasible per ENT evaluation. Multiple discussions regarding prognosis, quality of life, and options for medical care occurred among her interdisciplinary team, including neonatology, genetics, and palliative care. Parents of the patient chose compassionate care only and signed a DNR.