|
NR 3/2004
SUPLEMENT
|
|
|
|
|
|
|
|
|
Anomalia MCA/MR –
opis przypadku
MCA/MR anomaly – case report
Małgorzata Mrugacz, Dorota
Średzińska-Kita, Alina Bakunowicz-Łazarczyk, Beata Urban
Z Kliniki Okulistyki Dziecięcej Akademii Medycznej w Białymstoku
Kierownik: prof. dr hab. n. med. Alina Bakunowicz-Łazarczyk |
|
|
| Summary: |
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. |
| Słowa kluczowe: |
zespół MCA/MR, oko. |
| Key words: |
MCA/MR syndrome, eye. |
|
|
|
|
|
|
