Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

Özyurt, Abdullah; Baykan, Ali; Argun, Mustafa; Pamukçu, Özge; Halis, Hülya; Korkut, Sabriye; Yüksel, Zafer; Güneş, Tamer; Narın, Nazmi

doi:10.1515/bjmg-2015-0008

Cited by 9 publications

(4 citation statements)

References 11 publications

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“…Ozyurt et al reported two cases of early onset MFS. [7] One of these cases was a 2-month old with a clinical phenotype strikingly similar to our case. Features included arachnodactyly, pectus excavatum, similar facial features, and craniosynostosis.…”

Section: Discussionsupporting

confidence: 75%

Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

Recker

Kronenwetter

Reynolds

et al. 2022

Surgical Neurology International

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Background: Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissues caused by mutations in the FBN1 gene which can result in widespread systemic involvement. Loeys-Dietz syndrome (LDS) is a related autosomal dominant disorder of connective tissue with widespread systemic involvement which has phenotypic overlap with MFS. LDS is caused by heterozygous pathogenic variants in six different genes, the most common of which involve transforming growth factor beta-receptor 1 or 2. While LDS is commonly associated with craniofacial manifestations, MFS is not typically characterized by craniosynostosis. Case Description: We present a 7-month-old female patient with MFS and metopic craniosynostosis with an unusual clinical presentation who underwent cranial vault reconstruction with fronto-orbital advancement and anterior cranial vault remodeling. Her course was complicated by impaired wound healing after surgery, requiring return to the operating room. Conclusion: Phenotypic overlap between genetic disorders can confound clinical diagnosis as illustrated in this case. Genetic testing can be highly valuable in the diagnosis of clinically variable disorders. Patients with MFS who undergo cranial surgery may be at increased risk for wound healing complications.

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Section: Discussionsupporting

confidence: 75%

Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

Recker

Kronenwetter

Reynolds

et al. 2022

Surgical Neurology International

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show abstract

“…MFS is generally an autosomal dominant disorder with variable expressivity caused by mutations in FBN1 . Approximately 75% of classic MFS cases are hereditary, while eoMFS is mainly sporadic (5). Varied changes in protein domains caused by these point mutations lead to diverse clinical phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Prenatal and postnatal echocardiographic manifestations of early-onset Marfan syndrome: a case report

pu,

Wang,

Liu

et al. 2024

Preprint

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“…MFS is generally an autosomal dominant disorder with variable expressivity caused by mutations in FBN1. Approximately 75% of classic MFS cases are hereditary, while eoMFS is mainly sporadic [5]. The FBN1 mutations cause various changes in the numerous domains of the protein, which lead to diverse clinical phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Prenatal and postnatal echocardiographic manifestations of early-onset Marfan syndrome: a case report

Wang

Liu

et al. 2022

Preprint

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Early-onset Marfan syndrome (eoMFS) is a rare subset of Marfan syndrome with varying phenotypic expression that occurs in the neonatal and infantile periods. eoMFS has a poor prognosis and is associated with high rates of mortality. Most newborn eoMFS patients present with early onset heart failure that is resistant to treatment. However, eoMFS is not easily diagnosed prenatally. This study presents a case of eoMFS in which the patient was assessed to be normal in utero. The patient's developmental process is shown in relatively complete detail.

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Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

Cited by 9 publications

References 11 publications

Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

Prenatal and postnatal echocardiographic manifestations of early-onset Marfan syndrome: a case report

Prenatal and postnatal echocardiographic manifestations of early-onset Marfan syndrome: a case report

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