| Bieżący suplement Archiwum Klinika Oczna |
3/2004
vol. 106 streszczenie artykułu:
Opis przypadku
Anomalia MCA/MR – opis przypadku
Malgorzata Mrugacz
1
,
Dorota Średzińska-Kita
1
,
Alina Bakunowicz-Łazarczyk
1
,
Beata Urban
1
KLINIKA OCZNA 2004, Supl. 3: S538–S539
Data publikacji online: 2022/12/29
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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 methods 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. |
