Encephalocele (cerebellocele) in the Goldenhar-Gorlin syndrome.
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 C1 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.
D002526:Cerebellar Diseases / Q000150:complications; D004677:Encephalocele / Q000150:complications*; D006053:Goldenhar Syndrome / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008342:Mandibulofacial Dysostosis / Q000150:complications*; D014513:Ureter / Q000002:abnormalities; D001743:Urinary Bladder / Q000002:abnormalities