{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T13:24:54Z","timestamp":1791984294708,"version":"4.4.0"},"reference-count":39,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Detailed clinical phenotypes have been previously reported for 33 individuals with X\u2010linked HNRNPH2\u2010related neurodevelopmental disorder. Of these, 75% self\u2010reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes. Musculoskeletal phenotypes, screening recommendations, and treatment strategies have not been previously described. This case series presents a comprehensive overview of the musculoskeletal and orthopedic evaluations performed on 19 individuals diagnosed with X\u2010linked HNRNPH2\u2010related neurodevelopmental disorder (H2\u2010RNDD). The evaluations cover standardized assessments of the spine, hips, knees, ankles, and feet. Physical exam findings and imaging results are described in detail. Pes planovalgus was noted 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%). By highlighting common musculoskeletal and orthopedic issues, this series aims to support timely recognition and provide recommendations for appropriate screening and treatment strategies.<\/jats:p>","DOI":"10.1002\/ajmg.a.70246","type":"journal-article","created":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T06:41:43Z","timestamp":1784702503000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Musculoskeletal Phenotypes of 19 Patients With X\u2010Linked\n                    <scp>HNRNPH2<\/scp>\n                    \u2010Related Neurodevelopmental Disorder: A Prospective Case Series"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8056-3588","authenticated-orcid":false,"given":"Ambar","family":"Garcia","sequence":"first","affiliation":[{"name":"Vagelos College of Physicians and Surgeons Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Salazar","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Holuba","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franklin E.","family":"Paulino","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G.","family":"Vitale","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6642-8902","authenticated-orcid":false,"given":"Jennifer M.","family":"Bain","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology Columbia University Irving Medical Center  New York New York USA"},{"name":"Weinberg Family Cerebral Palsy Center, Department of Neurology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1775-3653","authenticated-orcid":false,"given":"Joshua","family":"Hyman","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Columbia University Irving Medical Center  New York New York USA"},{"name":"Weinberg Family Cerebral Palsy Center, Department of Neurology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,21]]},"reference":[{"key":"e_1_2_11_2_1","unstructured":"American Academy for Cerebral Palsy and Developmental Medicine (AACPDM). n.d.\u201cHip Surveillance in Cerebral Palsy.\u201dhttps:\/\/www.aacpdm.org\/publications\/care\u2010pathways\/hip\u2010surveillance\u2010in\u2010cerebral\u2010palsy."},{"issue":"4","key":"e_1_2_11_3_1","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1097\/01241398-200007000-00015","article-title":"Lateral Column Lengthening as Treatment for Planovalgus Foot Deformity in Ambulatory Children With Spastic Cerebral Palsy","volume":"20","author":"Andreacchio A.","year":"2000","journal-title":"Journal of Pediatric Orthopedics"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.15164"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.92.15_supplement.P1.6\u2010039"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.028"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000551"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/112070000901906s08"},{"issue":"18","key":"e_1_2_11_9_1","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.98.18_supplement.3773","article-title":"Rett\u2010Like Phenotypes in HNRNPH2\u2010Related Neurodevelopmental Disorder (P9\u20105.001)","volume":"98","author":"Gonzalez J. N.","year":"2022","journal-title":"Neurology"},{"issue":"1","key":"e_1_2_11_10_1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1053\/j.jfas.2016.10.001","article-title":"Investigation of the Relationship Between Flatfoot and Patellar Subluxation in Adolescents","volume":"56","author":"Han Y.","year":"2017","journal-title":"Journal of Foot and Ankle Surgery"},{"key":"e_1_2_11_11_1","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1007\/978-3-030-43240-9_42","volume-title":"Hip Arthroscopy and Hip Joint Preservation Surgery","author":"Hellman M. D.","year":"2022"},{"key":"e_1_2_11_12_1","first-page":"1121","volume-title":"Tachjian's Pediatric Orthopaedics","author":"Herring J. 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