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Holoprosencephaly: a developmental field defect.

V P Johnson
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Abstract

Holoprosencephaly refers to a spectrum of craniofacial malformations including cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis. Etiologic heterogeneity is well documented. Chromosomal, genetic, and teratogenic factors have been implicated. Recognition of holoprosencephaly as a developmental field defect stresses the importance of close scrutiny of relatives for mild forms such as single median incisor, hypotelorism, bifid uvula, or pituitary deficiency.

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Abnormalities, MultipleBrainFacial BonesFemaleGenetic TestingHumansInfantInfant, NewbornMalePedigreeRadionuclide ImagingSkullSyndromeTomography Scanners, X-Ray ComputedCase ReportsComparative StudyJournal ArticleResearch Support, Non-U.S. Gov't

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V P Johnson. 1989. Holoprosencephaly: a developmental field defect.. https://doi.org/10.1002/ajmg.1320340228

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