Arhinencephaly. The spectrum of associated malformations.
Eight cases are presented of arhinencephaly and its associated malformations, which included 2 examples of holoprosencephaly and 3 of agenesis of the corpus callosum. Additional features included cortical malformations, anomalies of the long tracts and of the optic pathway, cerebellar hypoplasia and dentato-olivary dysplasia. Each of these components covered a wide spectrum ranging in severity from extreme to minimal. Craniofacial dysmorphism, and cardiac, renal and endocrine disorders were present in some cases. Only 2 cases were associated with chromosomal abnormalities, 1 with trisomy 13, the other with partial trisomy 7(7q+). Of possible environmental factors, maternal diabetes was recorded in 1 case. While all cases can be classified into broad categories, the individual variations render each case apparently unique.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D061085:Agenesis of Corpus Callosum; D002648:Child; D004027:Diencephalon / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D012688:Septum Pellucidum / Q000002:abnormalities; D013687:Telencephalon / Q000002:abnormalities* / Q000473:pathology