[MCA/MR anomaly--case report].
OBJECTIVE
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.


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.
Mrugacz
Małgorzata
M
Kliniki Okulistyki Dzieciecej Akademii Medycznej w Białymstoku.
Sredzińska-Kita
Dorota
D
Bakunowicz-Lazarczyk
Alina
A
Urban
Beata
B
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D006801:Humans; D007180:Incisor / Q000002:abnormalities*; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis*; D009765:Obesity; D012164:Retinal Diseases / Q000175:diagnosis; D013577:Syndrome; D014786:Vision Disorders / Q000175:diagnosis*