Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia.
A premature female infant had the characteristic features of the median cleft face syndrome in association with holoprosencephaly, agenesis of the corpus callosum, hydrocephalus and choanal atresia. Whereas the nervous system is rarely affected in patients with the median cleft face syndrome, severe mental retardation has been reported in three previously published cases and is suggested in our own patient. All had an associated agenesis of the corpus callosum.
D000015:Abnormalities, Multiple; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities*; D002754:Choanal Atresia / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D013577:Syndrome