Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases.
A probably new syndrome of craniosynostosis, ataxia, trigeminal anaesthesia, and parietal alopecia area associated with pons-vermis fusion anomaly (atresia of the fourth ventricle), in two unrelated Mexican girls, is described. The cerebellar anomaly was proven by CT scan only and it correlated with ataxia. Other abnormalities seen in both patients were midfacial hypoplasia, bilateral corneal opacities, low-set ears, mental retardation and short stature. This disorder could be a new neurocutaneous syndrome.
D000505:Alopecia / Q000000981:diagnostic imaging; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002524:Cerebellar Ataxia / Q000000981:diagnostic imaging*; D002531:Cerebellum / Q000002:abnormalities; D002552:Cerebral Ventricles / Q000002:abnormalities*; D002648:Child; D003389:Cranial Nerve Diseases / Q000000981:diagnostic imaging; D003398:Craniosynostoses / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D008526:Medulla Oblongata / Q000002:abnormalities; D011149:Pons / Q000002:abnormalities; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014276:Trigeminal Nerve