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  • Title: [MCA/MR anomaly--case report].
    Author: Mrugacz M, Sredzińska-Kita D, Bakunowicz-Lazarczyk A, Urban B.
    Journal: Klin Oczna; 2004; 106(3 Suppl):538-9. PubMed ID: 15636261.
    Abstract:
    PURPOSE: MCA/MR (Cohen syndrome) is a multiple congenital anomalies retardation syndrome with autosomal recessive inheritance. The clinical criteria are nonspecific. The diagnosis was based on the triad: hypotonia, truncal obesity and prominent central incisors. Added to the clinical spectrum ophthalmologic findings such as antymongoloid eye slant and retinal changes, are very important to diagnosis. MATERIAL AND METHOD: The authors present a case of 11-year-old boy with MCA/MR. RESULTS: In this patient we found decreased visual acuity, myopia and retinal abnormalities. CONCLUSIONS: Cohen syndrome is a congenital anomaly with general and ophthalmological findings.
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