Musculoskeletal Phenotypes of 19 Patients With X-Linked HNRNPH2-Related Neurodevelopmental Disorder: A Prospective Case Series.
Ambar Garcia, Rachel Salazar, Nicole Holuba et al.
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Case in brief
This prospective case series describes standardized musculoskeletal and orthopedic assessments in 19 individuals with X-linked HNRNPH2-related neurodevelopmental disorder. Examinations and imaging covered the spine, hips, knees, ankles, and feet. Pes planovalgus was found in 17 (89%) individuals, restricted hip extension in 9 (47%), reduced ankle dorsiflexion in 7 (37%), scoliosis in 4 (21%), and hip subluxation in 4 (21%). The abstract reports these findings and their relevance to screening and treatment strategies, but does not describe individual management or clinical resolution.
What made this case unusual
The series provides systematic examination and imaging findings across multiple musculoskeletal regions in H2-RNDD, whereas prior reports had relied on self-reported abnormalities and had not described musculoskeletal phenotypes or screening strategies.
Diagnostic / clinical pearl
In H2-RNDD, assess the feet, hip range of motion, ankle dorsiflexion, spine, and hip alignment; pes planovalgus was the most frequent finding in this series.