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Last Updated: 10/31/2025

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Found 341 publications

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

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.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Journal: Cureus
Published: August 24, 2025

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.

Journal: American journal of medical genetics. Part A
Published: February 28, 2025

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

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.

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.

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.

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.

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.

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

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

Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.

Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.

Journal: JBMR plus
Published: June 19, 2024

Promising horizons in achondroplasia along with the development of new drugs.

Promising horizons in achondroplasia along with the development of new drugs.

Journal: Endocrine journal
Published: April 03, 2024
Showing 1-12 of 341

Last Updated: 10/31/2025