Results 121 to 130 of about 5,787 (168)
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Holoprosencephaly with Proboscis
Gynecologic and Obstetric Investigation, 2010This 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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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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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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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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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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Ryoikibetsu shokogun shirizu, 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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2018
The ZIC2 transcription factor is one of the most commonly mutated genes in Holoprosencephaly (HPE) probands. HPE is a severe congenital defect of forebrain development which occurs when the cerebral hemispheres fail to separate during the early stages of organogenesis and is typically associated with mispatterning of the embryonic midline. Recent study
Barratt, Kristen S., Arkell, Ruth M.
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The ZIC2 transcription factor is one of the most commonly mutated genes in Holoprosencephaly (HPE) probands. HPE is a severe congenital defect of forebrain development which occurs when the cerebral hemispheres fail to separate during the early stages of organogenesis and is typically associated with mispatterning of the embryonic midline. Recent study
Barratt, Kristen S., Arkell, Ruth M.
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Facial Evaluation in Holoprosencephaly
Journal of Craniofacial Surgery, 2017Holoprosencephaly (HPE) is a malformation of the brain, occurring during the first weeks of pregnancy, that may be associated with several craniofacial alterations and different pathological conditions.The authors describe a 2-year-old girl with lobar HPE, epilepsy, but with a roughly normal face.
V. Pucciarelli +5 more
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