Achard Syndrome Latest Advances

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

Journal: Ophthalmic genetics

Published: August 10, 2026

A Case of FBN1-Related Early Onset Marfan Syndrome with Multi-Suture Craniosynostosis.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: June 18, 2026

Spontaneous Vertebral Artery Dissection as the Heralding Manifestation of Previously Undiagnosed Marfan Syndrome in a Young Adult with Posterior Circulation Stroke: A Case Report.

Journal: Reports (MDPI)

Published: June 11, 2026

Arachnodactyly and congenital contractures in a patient with nodular osteoarthritis: Suspicion of Beals syndrome.

Journal: Reumatologia clinica

Published: April 08, 2026

Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity.

Journal: Frontiers in medicine

Published: March 12, 2026

Kikuchi Disease With Marfanoid Features in a Background of Fever of Unknown Origin.

Journal: Cureus

Published: February 22, 2026

Syndrome of the Month: Van den Ende-Gupta Syndrome: Gestalt Diagnosis, Outcomes, and Recommendations.

Journal: American journal of medical genetics. Part A

Published: January 21, 2026

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Journal: American journal of medical genetics. Part A

Published: December 01, 2025

Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly.

Journal: Genetics research

Published: November 16, 2025

Single-staged kyphoscoliosis correction using Smith-Petersen's osteotomy (SPO) in an adolescent with severe thoracolumbar kyphoscoliosis and Marfanoid habitus: a case report.

Journal: International journal of surgery case reports

Published: October 22, 2025

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Journal: Medicine

Published: August 25, 2025

Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.

Journal: Human genome variation

Published: July 31, 2025

Achard Syndrome Latest Advances

Find the Latest Research About Achard Syndrome

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

A Case of FBN1-Related Early Onset Marfan Syndrome with Multi-Suture Craniosynostosis.

A Case of FBN1-Related Early Onset Marfan Syndrome with Multi-Suture Craniosynostosis.

Spontaneous Vertebral Artery Dissection as the Heralding Manifestation of Previously Undiagnosed Marfan Syndrome in a Young Adult with Posterior Circulation Stroke: A Case Report.

Spontaneous Vertebral Artery Dissection as the Heralding Manifestation of Previously Undiagnosed Marfan Syndrome in a Young Adult with Posterior Circulation Stroke: A Case Report.

Arachnodactyly and congenital contractures in a patient with nodular osteoarthritis: Suspicion of Beals syndrome.

Arachnodactyly and congenital contractures in a patient with nodular osteoarthritis: Suspicion of Beals syndrome.

Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity.

Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity.

Kikuchi Disease With Marfanoid Features in a Background of Fever of Unknown Origin.

Kikuchi Disease With Marfanoid Features in a Background of Fever of Unknown Origin.

Syndrome of the Month: Van den Ende-Gupta Syndrome: Gestalt Diagnosis, Outcomes, and Recommendations.

Syndrome of the Month: Van den Ende-Gupta Syndrome: Gestalt Diagnosis, Outcomes, and Recommendations.

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly.

Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly.

Single-staged kyphoscoliosis correction using Smith-Petersen's osteotomy (SPO) in an adolescent with severe thoracolumbar kyphoscoliosis and Marfanoid habitus: a case report.

Single-staged kyphoscoliosis correction using Smith-Petersen's osteotomy (SPO) in an adolescent with severe thoracolumbar kyphoscoliosis and Marfanoid habitus: a case report.

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.

Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.