Results 191 to 200 of about 11,012 (235)
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Developmental Medicine & Child Neurology, 1970
SUMMARYThree siblings with holoprosencephaly, two of whom were non‐identical twins, and a fourth sibling who was stillborn with hydrocephalus and probably had the same condition, are reported. The malformation was demonstrated by ventricular air studies and the diagnosis was confirmed at autopsy in the one child who died.
M, Khan, B, Rozdilsky, J W, Gerrard
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SUMMARYThree siblings with holoprosencephaly, two of whom were non‐identical twins, and a fourth sibling who was stillborn with hydrocephalus and probably had the same condition, are reported. The malformation was demonstrated by ventricular air studies and the diagnosis was confirmed at autopsy in the one child who died.
M, Khan, B, Rozdilsky, J W, Gerrard
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Neuropathology of holoprosencephaly
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010AbstractHoloprosencephaly (HPE) is a brain malformation which results from a primary defect in induction and patterning of the rostral neural tube during early embryogenesis and usually considered as an impaired cleavage of the prosencephalon. The review of neuropathologic findings highlights a complex malformation involving not only the prosencephalon
Pascale, Marcorelles, Annie, Laquerriere
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Embryogenesis of holoprosencephaly
American Journal of Medical Genetics Part A, 2007AbstractHoloprosencephaly (HPE) is a malformation of the human brain caused primarily by incomplete division of the prosencephalon into two halves and is often associated with various facial anomalies. Although HPE is rather rare in newborns (1/10,000–15,000 births), it is frequently encountered in therapeutic abortuses (>1/250).
Kohei, Shiota +3 more
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Teratogenesis of holoprosencephaly
American Journal of Medical Genetics, 2002AbstractTeratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by four tables summarizing etiologic factors. Subjects evaluated here include: 1) maternal diabetes; 2) ethyl alcohol; 3) retinoic acid; 4) mutated genes and teratogens involving the sonic hedgehog signaling network and ...
M Michael, Cohen, Kohei, Shiota
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Fetal and Maternal Medicine Review, 2001
Holoprosencephaly (HPE) is an uncommon and clinically severe abnormality of forebrain development, resulting from failure of septation, or cleavage, of the midline forebrain structures. It encompasses a range of brain pathology classified as lobar, semilobar or alobar HPE reflecting increasing degrees of failed septation.
PJ Bullen, SC Robson
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Holoprosencephaly (HPE) is an uncommon and clinically severe abnormality of forebrain development, resulting from failure of septation, or cleavage, of the midline forebrain structures. It encompasses a range of brain pathology classified as lobar, semilobar or alobar HPE reflecting increasing degrees of failed septation.
PJ Bullen, SC Robson
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Aventriculi associated with holoprosencephaly
Recently, an 11 year-old girl was reported with fusion of the cerebral hemispheres (holoprosencephaly), and cerebellar hemispheres (rhombencephalosynapsia), without identifiable ventricles. The condition was named as aventriculi.
R N Sener
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Disorders of Ventral Induction/Spectrum of Holoprosencephaly.
Neuroimaging clinics of North America, 2019Disorders of the ventral induction give rise to a group of congenital malformations that share in common the failure of the prosencephalon cleavage and subsequent formation of midline structures, presenting with a wide spectrum of severity.
S. Calloni, L. Caschera, F. Triulzi
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Neurology, 2002
Almost four decades have passed since William DeMeyer linked facial dysmorphism and holoprosencephaly (HPE) with the phrase, “the face predicts the brain.” HPE is a congenital brain malformation in which the hemispheres and basal ganglia are incompletely separated to varying degrees.1 Subsequent advances in neuroimaging and molecular biology permit ...
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Almost four decades have passed since William DeMeyer linked facial dysmorphism and holoprosencephaly (HPE) with the phrase, “the face predicts the brain.” HPE is a congenital brain malformation in which the hemispheres and basal ganglia are incompletely separated to varying degrees.1 Subsequent advances in neuroimaging and molecular biology permit ...
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Holoprosencephaly from conception to adulthood
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018Holoprosencephaly (HPE) consists of a spectrum of malformations related to incomplete separation of the prosencephalon. There is a wide clinical variability depending on the HPE subtype seen on imaging.
K. Weiss +3 more
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