Rare Diseases Symptoms Automatic Extraction

[MCA/MR anomaly--case report].

[cohen syndrome]

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.The authors present a case of 11-year-old boy with MCA/MR.In this patient we found decreased visual acuity, myopia and retinal abnormalities.Cohen syndrome is a congenital anomaly with general and ophthalmological findings.

Diseases presenting "retinal changes" symptom

  • cohen syndrome

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