Rhizomelic Syndrome Latest Advances

Rhizomelic short stature with dysmorphism in two siblings due to PKDCC gene pathogenic variants.

Journal: JCEM case reports

Published: November 17, 2025

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 homozygous variant in FGFR3 causing lethal skeletal dysplasia.

Journal: Sudanese journal of paediatrics

Published: January 01, 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

Rhizomelic Syndrome Latest Advances

Find the Latest Research About Rhizomelic Syndrome

Rhizomelic short stature with dysmorphism in two siblings due to PKDCC gene pathogenic variants.

Rhizomelic short stature with dysmorphism in two siblings due to PKDCC gene pathogenic variants.

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

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

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.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.

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

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

A homozygous variant in FGFR3 causing lethal skeletal dysplasia.

A homozygous variant in FGFR3 causing lethal skeletal dysplasia.

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.

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

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

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.

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.

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

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