P389: Expanding the fibrillinopathy spectrum: Craniosynostosis in early-onset Marfan syndrome
Abstract
Enalapril was initiated for mitral valve regurgitation, while cardiothoracic surgical intervention was deferred in favor of close monitoring. After multidisciplinary consultation, cranial vault remodeling surgery was also deferred due to cardiovascular concerns. The patient was referred to pediatric ophthalmology for surveillance of potential ocular manifestations associated with eoMFS.
Fields of Study & Subjects
Connective tissue disorders research
Craniofacial Disorders and Treatments
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103883–103883
- Publication date
- 1 January 2026
- Language
- EN