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Case Reports
. 2013 Dec 11:2013:bcr2013201632.
doi: 10.1136/bcr-2013-201632.

Marfan syndrome

Eesha Jain  1 , Ramesh Kumar Pandey
Affiliations
Case Reports

Marfan syndrome

Eesha Jain et al. BMJ Case Rep. .

Abstract

Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals.

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Figures

Figure 1
Figure 1
The patient showing (A) arachnodactyly, (B) dolichostenomelia and (C and D) ligamentous laxity.
Figure 2
Figure 2
Facial and intraoral photographs of the patient showing (A) dolicocephaly and leptoprosopic facial form and (B and C) crowding and a high arched narrow palate.
Figure 3
Figure 3
Dentascan showing grossly carious left deciduous, maxillary first molar and septate left maxillary sinus.
See this image and copyright information in PMC

References

    1. Pyeritz RE. Toward understanding cause and pathogenesis of Marfan syndrome. In: Hetzer R, Gehle P, Ennker J, eds Cardiovascular aspects of Marfan syndrome. Darmstadt, Germany: Steinkopff Verlag, 1995:1–8
    1. von Kodolitsch Y, Robinson PN. Marfan syndrome: an update of genetics, medical and surgical management. Heart 2007;93:755–60 - PMC - PubMed
    1. Pyeritz RE, Gasner C. The Marfan syndrome. 4th edn New York: The National Marfan Foundation, 1994
    1. Allwork SP, Miall-Allen VM, Wyse RK, et al. Cardiovascular disease in Marfan patients in infancy and childhood. In: Hetzer R, Gehle P, Ennker J, eds Cardiovascular aspects of Marfan syndrome. Darmstadt, Germany: Steinkopff Verlag, 1995:17–23
    1. Robiscek F, Thubrikar M. The mechanism and prevention of aortic dissection in Marfan syndrome. In: Hetzer R, Gehle P, Ennker J, eds Cardiovascular aspects of Marfan syndrome. Darmstadt, Germany: Steinkopff Verlag, 1995:61–70

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