Hypochondroplasia Latest Advances

Clinical features and variant spectrum of FGFR3-related disorders

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: October 22, 2025

Effect of Vosoritide therapy on IGF-I and Endogenous C-type Natriuretic Peptide in Hypochondroplasia.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 07, 2025

Targeting fibroblast growth factor receptor 3 gain-of-function with Infigratinib, a promising precision therapy for hypochondroplasia.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: August 07, 2025

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

Journal: Archivos argentinos de pediatria

Published: July 15, 2025

Acute arterial ischemic stroke in children: single-center experience.

Journal: Arquivos de neuro-psiquiatria

Published: June 25, 2025

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.

Journal: Orphanet journal of rare diseases

Published: June 23, 2025

The Head Circumference Height Index (HCH-I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children.

Journal: American journal of medical genetics. Part A

Published: June 14, 2025

Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs.

Journal: Molecular genetics & genomic medicine

Published: May 27, 2025

TYRA-300, an FGFR3 selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia.

Journal: JCI insight

Published: April 03, 2025

Acanthosis Nigricans in Hypochondroplasia Due to FGFR3 Mutation.

Journal: JCEM case reports

Published: March 24, 2025

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

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: March 20, 2025

ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: February 19, 2025