access to care; healthcare disparities; rural health; congenital anomaly; genetic testing


Medicine and Health Sciences


Osteopathia striata with cranial sclerosis (OSCS) is a rare skeletal dysplasia inherited in an X-linked dominant pattern. Patients present with a wide variety of congenital anomalies such as craniofacial, cardiac, musculoskeletal, intestinal, and genitourinary abnormalities, and developmental delay. The genetic mutation causes increased ossification of bones which can compress cranial nerves and subsequently lead to acquired hearing loss, facial paralysis, and other neurologic defects. OSCS has also been associated with epileptic seizures, pyloric stenosis, hypothyroidism, and increased bone fragility. Due to the nonspecific presentation of conditions like OSCS and the serious complications it predisposes patients to, it is important that children undergo early genetic testing to confirm the diagnosis of such conditions. Genetic testing and similar services are especially limited in rural and underserved areas and this significantly impacts patient care, particularly for the pediatric population. This case describes a child with limited access to nearby genetic services presenting with multiple unexplained congenital abnormalities who was ultimately diagnosed with OSCS following genetic testing. It describes the clinical presentation of a rare condition and highlights the significantly protracted process of genetic testing for patients in underserved areas without access to genetic services and why providers must be aware of these healthcare disparities and how they affect patients.