Musculoskeletal Phenotypes of 19 Patients With X-Linked HNRNPH2-Related Neurodevelopmental Disorder: A Prospective Case Series.

X-linked HNRNPH2-related neurodevelopmental disorder, whose musculoskeletal and orthopaedic manifestations had not previously been systematically described.

Detailed clinical phenotypes had already been reported for 33 individuals with X-linked HNRNPH2-related neurodevelopmental disorder, 75% of whom self-reported a musculoskeletal abnormality, but orthopaedic phenotypes, screening recommendations and treatment strategies had not been described. This prospective case series presents musculoskeletal and orthopaedic evaluations of 19 affected individuals, with standardised assessment of the spine, hips, knees, ankles and feet, together with imaging results. Pes planovalgus was noted in 17 individuals (89%), restricted hip extension in 9 (47%), reduced ankle dorsiflexion in 7 (37%), scoliosis in 4 (21%) and hip subluxation in 4 (21%). The authors propose screening and management recommendations based on these findings.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

No genetic novelty here, but useful characterisation work: the high frequency of foot and hip involvement justifies systematic orthopaedic assessment at follow-up, without waiting for functional complaints. Nineteen patients assessed at a single centre, with no comparator group, means these percentages should be read as orders of magnitude rather than penetrance rates. This is the kind of data that feeds multidisciplinary follow-up protocols rather than variant interpretation.

Analysis by Dr Thibaut Benquey