Holoprosencephaly: A developmental field defect

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 develop...

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Veröffentlicht in:American journal of medical genetics 1989-10, Vol.34 (2), p.258-264
1. Verfasser: Johnson, Virginia P.
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - diagnostic imaging
Abnormalities, Multiple - genetics
Biological and medical sciences
Brain - abnormalities
Brain - diagnostic imaging
craniofacial malformations
etiologic heterogeneity
Facial Bones - abnormalities
Female
Genetic Testing
Humans
Infant
Infant, Newborn
Male
Malformations of the nervous system
Medical sciences
Neurology
Pedigree
Radionuclide Imaging
single central maxillary incisor
Skull - abnormalities
Syndrome
Tomography Scanners, X-Ray Computed
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Beschreibung
Zusammenfassung: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, hyptelorism, bifid uvula, of potuitary deficiency.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320340228