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CLINICAL IMAGE
Year : 2022  |  Volume : 19  |  Issue : 3  |  Page : 192-193

External musculoskeletal markers of marfan syndrome


Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India

Date of Submission06-Feb-0202
Date of Decision03-Apr-2022
Date of Acceptance14-Apr-2022
Date of Web Publication06-May-2022

Correspondence Address:
Thirunavukkarasu Arun Babu
Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/am.am_23_22

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How to cite this article:
Babu TA. External musculoskeletal markers of marfan syndrome. Apollo Med 2022;19:192-3

How to cite this URL:
Babu TA. External musculoskeletal markers of marfan syndrome. Apollo Med [serial online] 2022 [cited 2022 Sep 29];19:192-3. Available from: https://apollomedicine.org/text.asp?2022/19/3/192/344871



A 12-year-old boy presented with a history of palpitations on and off for the past 6 months. It was spontaneous in onset and not associated with exertion. He had no other cardiac symptoms such as chest pain, breathlessness, syncope, or cyanosis. He had no significant medical history. He was developmentally normal and was fully immunized. There was a history of similar complaints in a paternal cousin. Clinical examination revealed a tall, and lean built. His arm span-to-height ratio was 1.11. He had slender, long fingers (arachnodactyly). When he was asked to fold his thumb into a closed fist, the tip of thumb extended from the palm of the hand and was visible beyond the little finger (positive “thumb sign,” also known as Steinberg sign) [Figure 1]. When he was asked to grip his wrist with his opposite hand, the thumb and fifth little finger of the hand overlapped with each other (positive “wrist sign,” also known as Walker–Murdoch sign) [Figure 2]. Oral examination revealed a high-arched palate [Figure 3]. General examination and vitals were within normal limits. Cardiovascular examination revealed pectus carinatum, pansystolic murmur, and multiple systolic clicks. Other systems were within normal limits. Echocardiography revealed mitral valve prolapse with moderate mitral regurgitation. A clinical diagnosis of probable Marfan syndrome was made based on Ghent nosology.
Figure 1: Photograph showing “positive thumb sign” – Thumb tip protruding beyond the ulnar border of the hand in a clenched fist position

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Figure 2: Photograph showing “positive wrist sign” – Thumb and little finger overlap with each other when encircling the wrist

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Figure 3: Intraoral picture showing “high-arched palate”

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Marfan syndrome is an inherited disorder of connective tissue that typically involves multiple organ systems, including skin, musculoskeletal, ocular, and cardiovascular systems.[1] It was first described by a French pediatrician called Marfan in 1896. The estimated incidence of Marfan syndrome is approximately 1 in 5000 worldwide, including India. It is caused due to the mutations in the gene encoding the extracellular matrix protein known as fibrillin-1. Approximately 75% of mutations are inherited from parents, whereas 25% are new mutations. Affected individuals have disproportionately long, thin limbs (dolichostenomelia), fingers (arachnodactyly), and toes. They can also have a high-arched plate, sternal deformities (pectus excavatum and pectus carinatum), kyphoscoliosis, and atlantoaxial subluxation. They can also demonstrate a positive thumb sign (Steinberg sign) and wrist sign (Walker–Murdoch sign).[2] Thumb sign is considered positive when the distal phalanx of the adducted thumb extends beyond the ulnar border of the palm. Wrist sign is positive when the thumb and fifth finger of the hand overlap with each other. Wrist sign indicates arachnodactyly and hypermobility, both of which are features of Marfan syndrome. The physical findings of Marfanoid habitus can also be found in Ehlers-Danlos syndrome, homocystinuria, and multiple endocrine neoplasia (MEN) type IIB syndrome.[3]

Cardiovascular findings include atrioventricular valve thickening and prolapse, ventricular dysrhythmias, aortic aneurysm, dissection, rupture, and rarely dilated cardiomyopathy. The ocular findings include lens dislocation (ectopia lentis), severe myopia, flat cornea, and increased risk of cataracts and glaucoma.

Adequate knowledge of the typical physical findings of Marfanoid habitus-associated systemic features and a high index of suspicion is needed for early diagnosis and treatment.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given their consent for the patient's images and other clinical information to be reported in the journal. The patient's parents understand that the patient's name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Dean JC. Marfan syndrome: Clinical diagnosis and management. Eur J Hum Genet 2007;15:724-33.  Back to cited text no. 1
    
2.
Pepe G, Giusti B, Sticchi E, Abbate R, Gensini GF, Nistri S. Marfan syndrome: Current perspectives. Appl Clin Genet 2016;9:55-65.  Back to cited text no. 2
    
3.
Ningombam DS, Aparnadevi P, Nandini DB, Wahengbam TS. Multiple endocrine neoplasia type 2B: A report of a rare case. J Oral Maxillofac Pathol 2020;24:339-43.  Back to cited text no. 3
  [Full text]  


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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