Brachydactyly Latest Advances

Chitayat Syndrome: A Rare Case of Respiratory Distress in a Preterm Infant.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: January 22, 2026

ROP mimicker in a big premature baby: Adams-Oliver syndrome with DOCK6 mutation: a case report and review of the literature.

Journal: Ophthalmic genetics

Published: December 29, 2025

Tuning RUNX2 in Craniofacial Development and Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

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

Published: December 16, 2025

Epidemiology of brachydactyly type A3 in China: a nationwide multicentre population-based study among children aged 3-17 years.

Journal: BMJ open

Published: November 14, 2025

Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.

Journal: Frontiers in genetics

Published: September 19, 2025

Expert consensus on the clinical diagnosis and management of Congenital brachydactyly (2025 Edition)

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: September 14, 2025

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Journal: Cureus

Published: August 26, 2025

Adams-Oliver Syndrome in a Newborn: A Case Report and Comprehensive Literature Review.

Journal: Cureus

Published: June 20, 2025

Three-generation familial transmission of a GNAS variant: from gestational phenotype in the mother to evolving prenatal/neonatal phenotype in the offspring.

Journal: Hormones (Athens, Greece)

Published: June 19, 2025

Clinical and genetic investigation of 4 children with microdeletion KBG syndrome

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: June 15, 2025

Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism.

Journal: Journal of clinical medicine

Published: June 11, 2025

Inactivating GNAS variants impair GPCR signaling and cause multiple suture craniosynostosis in humans and zebrafish.

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

Published: June 11, 2025