Kothari Mihir, Manurung Florence, Mithiya Bhavesh
Department of Pediatric Ophthalmology and Strabismus, Aditya Jyot Eye Hospital, Mumbai 400 031, India.
Case Rep Ophthalmol Med. 2011;2011:784259. doi: 10.1155/2011/784259. Epub 2011 Dec 22.
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.
马凡综合征（MFS）是一种常染色体显性遗传性结缔组织疾病，而杜安眼球后退综合征（DRS）是一种先天性颅神经支配障碍疾病（CCDD），5%-10%的患者可呈常染色体显性遗传。本文报告了一名8岁女童，其左眼患有DRS且双眼晶状体半脱位，与MFS相关，但无家族遗传史。据我们所知，这是首例DRS合并MFS的病例报告。这两种综合征同时出现非常罕见，似乎是巧合。
