Unilateral arhinencephaly in goldenhar-gorlin syndrome.
The post-mortem examination of the brain of a 2 1/2-year-old girl with clinical featutes of oculo-auriculo-vertebral dysplasia and hemifacial microsomia (Goldenhar-Gorlin syndrom) revealed a unilateral absence of the olfactory foramina of the lamina cribrosa of the ethmoid bone and ipsilateral absence of olfactory bulb and tract. Other cerebral abnormalities were also present. In this report, unilateral arhinencephaly in this disorder has been documented for the first time and an attempt has been made to correlate various nosological, clinical and pathological aspects of the case with previously reported instances of arhinencephaly. It is concluded that unilateral arhinencephaly occurs in a variety of cranial and facial abnormalities and is not specific for any particular syndrome.
D000015:Abnormalities, Multiple; D001344:Autopsy; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications; D003391:Cranial Nerves / Q000002:abnormalities; D003394:Craniofacial Dysostosis / Q000150:complications*; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D009830:Olfactory Bulb / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities; D013577:Syndrome