Results 161 to 170 of about 10,496 (209)
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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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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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Holoprosencephaly with Proboscis
Gynecologic and Obstetric Investigation, 1996This is the case of a male newborn with holoprosencephaly, marked hypotelorism, and a rudimentary nasal structure, the proboscis. The head CT scan showed a single monoventricle and two ocular globes fused at the midline. Chromosome studies showed a normal karyotype.
M, Galguera, L, Malave, A, Leon
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International Journal of Pediatric Otorhinolaryngology, 1994
A single nostril associated with alobar holoprosencephaly is a rare congenital lesion. This paper reports two female term neonates with holoprosencephaly. The first neonate asphyxiated at birth had a single nostril, hypotelorism, posterior cleft palate, inferonasal coloboma of the iris and disc and persistent tunica vasculosa lentis.
S P, Ram +3 more
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A single nostril associated with alobar holoprosencephaly is a rare congenital lesion. This paper reports two female term neonates with holoprosencephaly. The first neonate asphyxiated at birth had a single nostril, hypotelorism, posterior cleft palate, inferonasal coloboma of the iris and disc and persistent tunica vasculosa lentis.
S P, Ram +3 more
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The Indian Journal of Pediatrics, 2004
To conduct a clinical study of holoprosencephaly (HPE).Thirteen cases of HPE were studied regarding their clinical features, family history, and prenatal and imaging studies. Chromosomal analysis was done whenever fresh sample was available.Six cases were antenatally detected by ultrasound; four cases were stillborn.
Seema, Thakur +3 more
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To conduct a clinical study of holoprosencephaly (HPE).Thirteen cases of HPE were studied regarding their clinical features, family history, and prenatal and imaging studies. Chromosomal analysis was done whenever fresh sample was available.Six cases were antenatally detected by ultrasound; four cases were stillborn.
Seema, Thakur +3 more
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Familial agnathia‐holoprosencephaly
American Journal of Medical Genetics, 1983AbstractTwo stillborn sisters had characteristics of both agnathia and holoprosencephaly. Familial occurrence implies that agnathia‐holoprosencephaly may be determined by a single recessive gene, something to be taken into account when counseling such families.
Richard M. Pauli +4 more
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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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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 ...
openaire +1 more source