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Simultaneous occurrence of duane retraction syndrome with marfan syndrome

Mihir Kothari1, Florence Manurung, Bhavesh Mithiya

  • 1Department of Pediatric Ophthalmology and Strabismus, Aditya Jyot Eye Hospital, Mumbai 400 031, India.

Case Reports in Ophthalmological Medicine
|May 19, 2012
PubMed

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.

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