Holoprosencephaly: a developmental field defect.
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.
Johnson
V P
VP
Department of OB/GYN, School of Medicine, University of South Dakota, Vermillion.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011877:Radionuclide Imaging; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D015898:Tomography Scanners, X-Ray Computed