Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.

ABSTRACT:

Rationale

Marfan syndrome (MFS) has been defined as a genetic disorder that affects various systems such as the musculoskeletal, orbital, and cardiovascular systems. Neonatal MFS is considered rare and the most severe form of MFS is characterized by rapidly progressive atrioventricular valve dysfunction, often leading to death during early childhood due to congestive heart failure.

Patient concerns

A newborn with neonatal MFS and severe cardiac involvement. He presented various severe clinical features such as arachnodactyly, camptodactyly, elbow and knee joint contracture, senile facial appearance, and deep settling with down-slanting palpebral fissure, hypoplastic ear cartilage, sagging mouth, brachycephaly, and ectopia lentis.

Diagnosis

Genetic analysis revealed a

SUBMITTER: Yoon SH 

PROVIDER: S-EPMC10545169 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature