The patients in this paper had median cleft lip, poikilothermia, and seizures; delayed behavioral development was present in the case of alobar holoprosencephaly. Echoencephalography showed a unique pattern of echoes from the skull surfaces with an intervening echo-free zone in a child with alobar holoprosencephaly. The karyotypes were normal. Autopsy demonstrated details of alobar holoprosencephaly and also notable pathological features of the eyes, the latter resembling those described in microphthalmic eyes and also in 13-15 trisomy. Since the facial appearance may not accurately predict the extent of the brain defect, contrast studies are necessary to determine this. Echoencephalography may be a useful screening procedure.
Patel H, Dolman CL, Byrne MA. Holoprosencephaly With Median Cleft Lip: Clinical, Pathological, and Echoencephalographic Study. Am J Dis Child. 1972;124(2):217–221. doi:10.1001/archpedi.1972.02110140067008
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