[Developmental anomalies of the metencephalon in the craniofacial and vertebral malformation syndrome].
The authors describe a case of a girl aged 9 years with a syndrome of malformations--cleft of the upper lip, maxilla and palate, lack of C2 arch fusion, polycystic lesions of the vermis and cerebellar hemisphere with obliteration of the aqueduct. The syndrome of intracranial hypertension with prevailing cerebellar symptoms was the cause of diagnostic and surgical management. Suboccipital craniotomy was done with insertion of ventriculoatrial valve which restored the normal intracranial pressure. The girl recovered and resumed education.
D000015:Abnormalities, Multiple / Q000601:surgery; D002531:Cerebellum / Q000002:abnormalities*; D002535:Cerebral Aqueduct / Q000002:abnormalities*; D002574:Cervical Vertebrae / Q000002:abnormalities*; D002648:Child; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D003399:Craniotomy; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology* / Q000601:surgery; D013577:Syndrome
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