# A nurse is assessing a 10-year-old child suspected of having Marfan syndrome. Which assessment finding would be most characteristic of this genetic connective tissue disorder?

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## 문제

A nurse is assessing a 10-year-old child suspected of having Marfan syndrome. Which assessment finding would be most characteristic of this genetic connective tissue disorder?

## 보기

1. Short stature with broad chest and shortened limbs
2. Muscle weakness with delayed motor development
3. Tall, thin build with disproportionately long arms and fingers **✔ 정답**
4. Joint stiffness with limited range of motion

**정답: 3**

## 해설

Marfan syndrome is characterized by a tall, thin build with disproportionately long arms and fingers (arachnodactyly), which is the most distinctive skeletal feature. Other options describe findings not typical of Marfan syndrome.

## 심화 해설

Understanding Marfan Syndrome Skeletal Manifestations

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the FBN1 gene, which encodes fibrillin-1, a critical structural protein [2,3]. The multisystem nature of this condition means that a nurse's assessment must integrate findings across the cardiovascular, ocular, and skeletal systems. In the context of a pediatric assessment, the skeletal features are often the most immediately observable clues.

The most characteristic skeletal presentation is a tall, thin body habitus with disproportionately long extremities, a condition described as dolichostenomelia. This disproportionate growth is a direct result of the defective fibrillin-1 protein's impact on the regulation of transforming growth factor-beta (TGF-β) and the structural integrity of the extracellular matrix in bone and periosteum [2]. The excessive linear growth described in the case of the 13.5-year-old boy is a classic example of this manifestation [1]. This finding is coupled with arachnodactyly, which refers to abnormally long and slender fingers and toes.

The other options presented are not consistent with the typical Marfan syndrome phenotype. A short stature with a broad chest and shortened limbs is characteristic of skeletal dysplasias like achondroplasia, not the excessive long bone growth seen in MFS. While Marfan syndrome can affect bone quality and is associated with a higher risk of osteoporosis and fragility fractures, it does not typically present with primary muscle weakness and delayed motor development [2]. Joint involvement in MFS characteristically involves joint hypermobility and laxity, leading to an increased, rather than decreased, range of motion, making joint stiffness an atypical finding. A comprehensive assessment would also prompt the nurse to anticipate cardiovascular monitoring, as severe aortic root dilatation is a life-threatening complication that can manifest even in pediatric patients [1,4].References (research sources)

- [1]Case Report: A rare coexistence with severe aortic root dilatation and nutcracker phenomenon in pediatric Marfan syndrome.Case reportQiao X, Chen Y, Su D, Shang L, Pang Y. (2026) · DOI: 10.3389/fped.2026.1790656

- [2]Osteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management.Research articleBahir AW, Bahir MA, Bahir Q, Shao G, Ying X. (2025) · DOI: 10.7759/cureus.99172

## 임상 시나리오

Pediatric Marfan Syndrome AssessmentRecognizing Skeletal Hallmarks
The most characteristic skeletal finding is a tall, thin build with disproportionately long extremities (dolichostenomelia). Look for arachnodactyly (long, slender fingers).

These features result from defective fibrillin-1 due to FBN1 gene variants, impacting TGF-β regulation and extracellular matrix integrity.

CautionDo not confuse with achondroplasia (short limbs, broad chest). Also assess for joint hypermobility, not stiffness, and screen for cardiac and ocular involvement.

## 핵심 개념

- **Dolichostenomelia** — Disproportionately long limbs relative to the trunk, a classic skeletal feature of Marfan syndrome.
- **Arachnodactyly** — Abnormally long, slender fingers and toes, commonly seen in Marfan syndrome.
- **FBN1 gene** — The gene encoding fibrillin-1; pathogenic variants cause Marfan syndrome and disrupt connective tissue integrity.
- **Autosomal dominant** — A pattern of inheritance where one copy of a mutated gene is sufficient to cause the disorder.

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