Research & Literature

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

Saito T, Nagasaki K, Nishimura G, et al.

Pediatric radiology 2016; (46(4)):513-8 doi:10.1007/s00247-015-3518-2.

Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.

Okazaki T, Saito Y, Ueda R, et al.

Brain & development 2017; (39(1)):67-71 doi:10.1016/j.braindev.2016.07.004.

Simultaneous bilateral correction of genu varum with Smart frame.

Özkul B, Çamurcu Y, Sokucu S, et al.

Journal of orthopaedic surgery (Hong Kong) 2017; (25(2)):2309499017713915 doi:10.1177/2309499017713915.

Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.

Sargar KM, Singh AK, Kao SC

Radiographics : a review publication of the Radiological Society of North America, Inc 2017; (37(6)):1813-1830 doi:10.1148/rg.2017170017.

Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.

Chen J, Yang J, Zhao S, et al.

Gene 2018; (641()):355-360 doi:10.1016/j.gene.2017.10.062.

FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation.

Arenas MA, Del Pino M, Fano V

Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(11)):1279-1284.

Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.

Ramos Mejía R, Aza-Carmona M, Del Pino M, et al.

Journal of pediatric genetics 2020; (9(1)):48-52 doi:10.1055/s-0039-1695056.

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.

Sabir AH, Sheikh J, Singh A, et al.

American journal of medical genetics. Part A 2021; (185(1)):73-82 doi:10.1002/ajmg.a.61912.

Molecular genetic analysis and growth hormone response in patients with syndromic short stature.

Sun H, Li N, Wan N

BMC medical genomics 2021; (14(1)):261 doi:10.1186/s12920-021-01113-8.

Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases.

Ahmadi M, Herting A, Mueffelmann B, et al.

Epilepsy & behavior : E&B 2022; (126()):108479 doi:10.1016/j.yebeh.2021.108479.

Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant.

Kim HY, Lee YA, Shin CH, et al.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2023; (131(3)):123-131 doi:10.1055/a-1988-9734.

Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report.

Xie H, Chen Y, Xiong F, et al.

BMC pediatrics 2023; (23(1)):100 doi:10.1186/s12887-023-03917-2.

Growth reference charts for children with hypochondroplasia.

Cheung MS, Cole TJ, Arundel P, et al.

American journal of medical genetics. Part A 2024; (194(2)):243-252 doi:10.1002/ajmg.a.63431.

Vosoritide treatment for children with hypochondroplasia: a phase 2 trial.

Dauber A, Zhang A, Kanakatti Shankar R, et al.

EClinicalMedicine 2024; (71()):102591 doi:10.1016/j.eclinm.2024.102591.

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Fagereng E, Htwe S, McDonald S, et al.

Orphanet journal of rare diseases 2025; (20(1)):116 doi:10.1186/s13023-025-03610-w.

Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia.

Demuynck B, Shah BP, Mayeux F, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2025; (40(11)):1255-1264 doi:10.1093/jbmr/zjaf088.

Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study.

Chiaramonte SS, Del Pino M, Fano V

Archivos argentinos de pediatria 2025; (123(6)):e202510663 doi:10.5546/aap.2025-10663.eng.

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.

Baujat G, Hamandjian MA, Jannot AS, et al.

Orphanet journal of rare diseases 2025; (20(1)):555 doi:10.1186/s13023-025-04069-5.