# A Case of Marfan Syndrome With Congenital Hip Dysplasia and Spine Abnormality

## TL;DR

This case report describes an 11-year-old boy with Marfan syndrome who shows unusual musculoskeletal symptoms but no heart issues.

## Contribution

The novelty lies in highlighting atypical clinical features of Marfan syndrome without cardiovascular involvement.

## Key findings

- The patient exhibited classical signs like wrist/thumb signs and pectus carinatum, but lacked cardiovascular abnormalities.
- Management included beta-blockers, orthopedic care, and ophthalmologic interventions.
- The case emphasizes the need for multidisciplinary care and awareness of non-cardiac presentations.

## Abstract

Marfan syndrome, a hereditary disorder of connective tissue marked by FBN1 gene mutations, presents a clinical tapestry requiring a multidisciplinary approach for optimal management. This case report details the presentation of an 11-year-old male exhibiting musculoskeletal deformities, notably an abnormally curved spine and congenital hip dysplasia, indicative of Marfan syndrome. The absence of cardiovascular abnormalities and family history challenges the diagnostic process. Clinical evaluation revealed classical signs, including positive wrist and thumb signs, pectus carinatum, a loose skin fold, and scapular winging. Laboratory investigations, including imaging studies, confirmed the diagnosis. The patient’s management involves a multifaceted strategy, addressing cardiovascular risks through beta-blockers and potential surgical interventions, orthopedic measures for musculoskeletal complications, and ophthalmologic interventions for ocular manifestations. Genetic counseling facilitates informed decision-making, and psychosocial support ensures holistic care. This case underscores the necessity of recognizing atypical presentations and employing a holistic, collaborative approach for early diagnosis and effective management of Marfan syndrome, thereby emphasizing the importance of ongoing research and heightened clinical awareness in enhancing outcomes for individuals living with this intricate genetic disorder.