Marfan syndrome

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.

Figure 1

The patient showing (A) arachnodactyly, (B) dolichostenomelia and (C and D) ligamentous laxity.

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

Dentascan showing grossly carious left deciduous, maxillary first molar and septate left maxillary sinus.