Chondrodystrophy Latest Advances

Find the Latest Research About Chondrodystrophy

Last Updated: 04/28/2026

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Found 6404 publications

Modified Distal-Radial Dome Osteotomy With Segmental Resection for Madelung Deformity: A Case Report.

Modified Distal-Radial Dome Osteotomy With Segmental Resection for Madelung Deformity: A Case Report.

Journal: JBJS case connector
Published: April 10, 2026

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Journal: BMJ case reports
Published: February 20, 2026

Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene

Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 06, 2026

Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism

Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 01, 2026

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

Journal: Journal of genetics
Published: January 22, 2026

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

Journal: Journal of oral science
Published: January 18, 2026

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Journal: Prague medical report
Published: January 02, 2026

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Journal: BMJ case reports
Published: December 18, 2025

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Journal: International journal of molecular sciences
Published: November 29, 2025

Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long term misdiagnosis

Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long term misdiagnosis

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 13, 2025

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.

Journal: Frontiers in immunology
Published: November 06, 2025

Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.

Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.

Journal: Frontiers in endocrinology
Published: November 06, 2025
Showing 1-12 of 6,404

Last Updated: 04/28/2026