Abstract
A patient with unilateral preauricular appendages and occipital mass is described who died on the fifth day of life. An autopsy demonstrated congenital megabladder and megaureters and dysplastic kidneys. The neuropathological examination revealed cranium bifidum in the occipital region, defective posterior arch of the Cl vertebral body, agenesis of vermis and a large cerebellocele. It is suggested that some patients with the Goldenhar-Gorlin syndrome may have prominent central nervous system involvement in spite of only relatively slight facial involvement.
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Supported in part by the grant from the National Dental Institute No. 3568-012 and N.F. Foundation, N.Y.
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Aleksic, S., Budzilovich, G., Greco, M.A. et al. Encephalocele (cerebellocele) in the Goldenhar-Gorlin syndrome. Eur J Pediatr 140, 137–138 (1983). https://doi.org/10.1007/BF00441665
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DOI: https://doi.org/10.1007/BF00441665