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PubMed · 15636261

[MCA/MR anomaly--case report].

Małgorzata Mrugacz·Dorota Sredzińska-Kita·Alina Bakunowicz-Lazarczyk·Beata Urban
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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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Abnormalities, MultipleChildHumansIncisorMaleMuscle HypotoniaObesityRetinal DiseasesSyndromeVision DisordersCase ReportsEnglish AbstractJournal Article

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Małgorzata Mrugacz, Dorota Sredzińska-Kita, Alina Bakunowicz-Lazarczyk, Beata Urban. 2004. [MCA/MR anomaly--case report].. https://pubmed.ncbi.nlm.nih.gov/15636261/

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