title: Ocular manifestations of congenital Marfan syndrome with contractures (CMC syndrome).
abstract: The authors present the results of ocular examination of six children with congenital Marfan syndrome with contractures (CMC syndrome). The ocular and neuroradiological findings of the CMC syndrome are discussed with reference to the literature. The ocular findings are: blue sclerae, megalocorneas, hypoplastic irides with complete translucency, miosis, spherophakia with or without lens dislocation and severe myopia. This study demonstrates that ophthalmological examination of children with congenital contractures and arachnodactyly is very helpful for diagnosis of the CMC syndrome. The authors stressed that ophthalmologists should not only look for luxation of the lens in children who are suspected of having CMC syndrome. Spherophakia was common in the children and could easily be observed through the translucent irides. Biometric evaluation of the eyes is recommended. All of the cases in this paper and reported cases are sporadic. No conclusions have been reached in the literature on whether the CMC syndrome represents the severe expression of the classical Marfan syndrome or a distinct entity. Maybe the answer will remain difficult, until the specific molecular defects in the collagen diseases are discovered. This study demonstrates that ophthalmological examination of the children with congenital contractures and arachnodactyly is very helpful for the diagnosis of CMC syndrome.
authors.affiliation: Department of Ophthalmology, University Hospital Ghent, Belgium.
authors.forename: F M
authors.initials: FM
authors.lastname: Meire
authors.forename: W J
authors.initials: WJ
authors.lastname: Delleman
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000175:diagnosis / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology*; D014057:Tomography, X-Ray Computed