Simultaneous occurrence of duane retraction syndrome with marfan syndrome

Abstract

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5-10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

Figure 1

Digital face photographs of the patient demonstrating (a) orthotropia with right face turn, (b1) left eye exotropia in forced primary position when fixing with the right eye, (b2) increase in the deviation while fixing with the left eye, (c) absence of convergence, (d–l) ocular movements in cardinal positions of gaze.

Figure 2

Features suggestive of MFS. (a) Nasal subluxation of crystalline lens in the right eye and (b) in the left eye, (c) tall and thin stature with long arms, (d) positive thumb sign and arachnodactyly, (e) high arched palate with crowding of teeth.