Ellis-Van Creveld Syndrome Latest Advances

Find the Latest Research About Ellis-Van Creveld Syndrome

Last Updated: 02/24/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 637 publications

Ellis-van Creveld syndrome: skeletal dysplasia with associated hypoplastic left heart syndrome.

Ellis-van Creveld syndrome: skeletal dysplasia with associated hypoplastic left heart syndrome.

Journal: BMJ case reports
Published: October 10, 2025

Neural crest-specific disruption of Evc2 provides an animal model to study the temporomandibular joint (TMJ) development and homeostasis in response to jaw loading.

Neural crest-specific disruption of Evc2 provides an animal model to study the temporomandibular joint (TMJ) development and homeostasis in response to jaw loading.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: May 08, 2025

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.

Journal: Case reports in dentistry
Published: March 08, 2025

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Journal: Turkish journal of ophthalmology
Published: January 30, 2025

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

Journal: Journal of family medicine and primary care
Published: January 28, 2025

Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.

Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.

Journal: Interdisciplinary cardiovascular and thoracic surgery
Published: January 11, 2025

A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.

A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.

Journal: Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
Published: January 01, 2025

Rare Diseases Affecting the Orofacial Area in Children and Adolescents: Utilization of Noninvasive AI-Based Planning of Therapeutic Approaches.

Rare Diseases Affecting the Orofacial Area in Children and Adolescents: Utilization of Noninvasive AI-Based Planning of Therapeutic Approaches.

Journal: The Journal of craniofacial surgery
Published: December 26, 2024

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Journal: Hereditas
Published: December 04, 2024

Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.

Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.

Journal: Journal of orthopaedic case reports
Published: October 18, 2024

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: September 26, 2024

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Journal: Journal of medical genetics
Published: September 07, 2024
Showing 1-12 of 637

Last Updated: 02/24/2026