Rhizomelic Syndrome Latest Advances

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: September 05, 2025

A diagnostic and management odyssey of a rare case of rhizomelic chondrodysplasia punctata.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: August 25, 2025

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Journal: Cureus

Published: August 24, 2025

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.

Journal: American journal of medical genetics. Part A

Published: February 28, 2025

Posterior decompression and spinous process reconstruction for lumbar spinal stenosis in a pediatric patient with achondroplasia: a case report.

Journal: Journal of medical case reports

Published: February 08, 2025

A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly.

Journal: Molecular syndromology

Published: October 18, 2024

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Journal: Diagnostics (Basel, Switzerland)

Published: October 11, 2024

Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India.

Journal: Cureus

Published: October 04, 2024

Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 03, 2024

Pseudoachondroplasia associated with os odontoideum and retro-odontoid mass: case-based update.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: September 16, 2024

The Effectiveness of Growth Modulation Using Tension Band Plates in Children With Achondroplasia in Comparison to Children With Idiopathic Frontal Axial Deformities of the Knee.

Journal: Journal of pediatric orthopedics

Published: September 05, 2024

Genetic analysis of a fetus with Rhizomelic skeletal dysplasia

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

Published: July 01, 2024