Achard Syndrome Latest Advances
Find the Latest Research About Achard Syndrome
Last Updated: 06/30/2026
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Found 728 publications
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
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
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
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
Elastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome.
Journal: Cureus
Published: July 14, 2025
Late Loeys-Dietz Syndrome Diagnosis in an Adolescent With Severe Phenotype.
Journal: JACC. Case reports
Published: June 20, 2025
Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.
Journal: Circulation. Genomic and precision medicine
Published: May 23, 2025
Ultrasound Diagnosis of Marfan Syndrome Complicated by Barlow Disease With Mitral Annular Disjunction: A Case Report.
Journal: Journal of clinical ultrasound : JCU
Published: April 12, 2025
Last Updated: 06/30/2026