Description

The Battaglia-Neri Syndrome (BNS) is a rare hereditary disorder with multiple anomalies and mental retardation.


Inheritance: autosomal recessive

 

Clinical features:

(1) moderate to severe mental retardation

(2) coarse facial features

(3) microcephaly

(4) seizure disorder which may be difficult to control

(5) skeletal abnormalities (scoliois, retarded bone development)

(6) hirsutism


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