Marfan syndrome

A 12-year-old male presented to our clinic with a chief complaint of decayed teeth. Clinical examination revealed high-arched palate, arachnodactyly, positive Steinberg test (Figure 1A, black arrow) which is performed by instructing the patient to fold his thumb into the closed fist and the test is positive if the thumb tip extends from palm of hand. Patient also had mild pectus excavatum (Figure 1B, black arrow) with Haller index of 2.75 (Normal 2.5) and normal lung capacity. Two-dimensional echocardiogram for aortic dilation revealed a Z-score of 3.12 and slit lamp eye test showed ectopic lentis. The intraocular pressure was 15 mmHg (Normal 12–22 mmHg) with visual acuity of 20/30 (Normal 20/20). Patient also had a positive familial history for Marfan syndrome. Diagnosis arrived was Marfan syndrome by taking into consideration the 2010 Revised Ghent Nosology diagnostic criteria.1 For case to be diagnosed as Marfan syndrome Z-score must be ≥ 2 above 20 years old or ≥ 3 below 20 years old. There is no cure for Marfan syndrome but the treatment should focus on preventing various complications of the disease. Ectopic lentis was treated by new eyeglasses. Cardioselective beta blocker atenolol was prescribed to the patient for prevention of aorta dilation. No treatment was required for pectus excavatum. After a follow-up period of 1 year the patient remained stable.