The facial features of holoprosencephaly in anencephalic human specimens. I. Historical review and associated malformations.
At least 19 human anencephalic specimens have been published which have the facial features of holoprosencephaly. All categories of holoprosencephaly are represented except ethmocephaly, the rarest form. Because of current scientific and clinical interest in both neural tube defects and holoprosencephaly it seems important to establish whether or not this association occurs by chance alone. The study of human embryos with holoprosencephaly by Matsunaga and Shiota ('78) and the anencephalic collection of Lemire et al ('78) suggests the association may be real.
D009008:Abnormalities, Severe Teratoid / Q000473:pathology; D000757:Anencephaly / Q000235:genetics / Q000473:pathology*; D004677:Encephalocele / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male