{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T09:20:21Z","timestamp":1788254421795,"version":"build-2803163510"},"reference-count":54,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reports"],"abstract":"<jats:p>Introduction and Clinical Significance: Skeletal dysplasias comprise a genetically heterogeneous group of disorders with substantial phenotypic overlap, often complicating diagnosis. Clinical exome sequencing (CES) can facilitate molecular diagnosis in children with unexplained disproportionate short stature. Case Presentation: An 8-year-old boy presented with severe short stature (\u22123.24 SDS), brachydactyly, relative macrocephaly, broad nasal bridge, and mild calf hypertrophy. Endocrine evaluation confirmed growth hormone deficiency (GHD). Following negative SHOX testing, CES identified a heterozygous likely pathogenic IHH variant (c.446G&gt;A; p.Arg149His), establishing the diagnosis of brachydactyly type A1 (BDA1). Recombinant human growth hormone (rhGH), initiated for GHD, resulted in improved growth velocity and height SDS. Transient unilateral prepubertal gynecomastia developed during treatment and resolved after temporary rhGH withdrawal, with no recurrence following reinitiation. Conclusions: This case highlights the diagnostic value of CES in children with disproportionate short stature after unrevealing targeted testing and illustrates that GHD may coexist with IHH-related skeletal dysplasia. An integrated genetic and endocrine evaluation can refine diagnosis, identify coexisting treatable endocrine disorders, and guide individualized management.<\/jats:p>","DOI":"10.3390\/reports9030294","type":"journal-article","created":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T08:31:13Z","timestamp":1788251473000},"page":"294","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Brachydactyly Type A1 Caused by an IHH Variant in a Patient with Disproportionate Short Stature: A Case Report"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6609-2353","authenticated-orcid":false,"given":"In\u00e9s","family":"Garc\u00eda de Pablo","sequence":"first","affiliation":[{"name":"Servicio de Pediatr\u00eda, Hospital Universitario Nuestra Se\u00f1ora de Candelaria, 38010 Santa Cruz de Tenerife, Santa Cruz de Tenerife, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1624-6779","authenticated-orcid":false,"given":"Mar\u00eda Cristina","family":"Ontoria Betancort","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Hospital Universitario Nuestra Se\u00f1ora de Candelaria, 38010 Santa Cruz de Tenerife, Santa Cruz de Tenerife, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0380-3488","authenticated-orcid":false,"given":"Francisco","family":"Mart\u00ednez Bugallo","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica, Servicio de An\u00e1lisis Cl\u00ednicos, Hospital Universitario Nuestra Se\u00f1ora de Candelaria, 38010 Santa Cruz de Tenerife, Santa Cruz de Tenerife, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5068-627X","authenticated-orcid":false,"given":"Sebasti\u00e1n Eustaquio","family":"Mart\u00edn P\u00e9rez","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, Universidad Europea de Canarias, 38300 La Orotava, Santa Cruz de Tenerife, Spain"},{"name":"Faculty of Medicine, Health and Sports, Universidad Europea de Madrid, 28670 Villaviciosa de Od\u00f3n, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0148-6105","authenticated-orcid":false,"given":"Isidro Miguel","family":"Mart\u00edn P\u00e9rez","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, Universidad del Atl\u00e1ntico Medio, 35017 Tafira Baja, Las Palmas, Spain"},{"name":"Hospital Universitario Vithas Las Palmas, 35005 Las Palmas de Gran Canaria, Las Palmas, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.jor.2025.05.034","article-title":"Modeling Endochondral Ossification: Effects of Mechanical Loading and Bone Shape","volume":"68","year":"2025","journal-title":"J. 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