Is anencephaly a single entity? A brief note on the morphologic heterogeneity of anencephaly.
Considerations of the genetics of anencephaly have been based on the premise that this dysraphism is a single entity. However, morphologically anencephaly is a heterogeneous group made up of at least four major morphologic types-anencephalus craniorachischisis, anencephalus acrania, microcephalus acrania and microcephalus craniorachischisis. While I believe that the various types of anencephaly represent only degrees of severity of the same basic underlying defect(s), the possiblity of genetic as well as morphologic heterogeneity should be considered.
D000757:Anencephaly / Q000145:classification* / Q000235:genetics / Q000473:pathology; D005539:Foramen Magnum / Q000473:pathology; D006801:Humans; D012886:Skull / Q000473:pathology*