Holoprosencephaly: a developmental field defect |
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Authors: | V P Johnson |
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Affiliation: | Department of OB/GYN, School of Medicine, University of South Dakota, Vermillion. |
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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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