Results 11 to 20 of about 5,787 (168)
Orphanet Journal of Rare Diseases, 2007 Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. It is estimated to occur in 1/16,000
Henry Catherine +5 more
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Tiga Kasus Holoprosensefal Alobar dengan Variasi Gambaran Klinis:Diagnosis Ultrasonografi
Obgynia, 2022 Holoprosencephaly (HPE) is a spectrum of malformations with various outcomes and the most common congenital brain disorder. This report describes 3 cases of alobar holoprosencephaly that were confirmed antenatally by ultrasound examination.
Deviana Soraya Riu, Efendi Lukas
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The ubiquitin E3 ligase NOSIP modulates protein phosphatase 2A activity in craniofacial development. [PDF]
PLoS ONE, 2014 Holoprosencephaly is a common developmental disorder in humans characterised by incomplete brain hemisphere separation and midface anomalies. The etiology of holoprosencephaly is heterogeneous with environmental and genetic causes, but for a majority of ...
Meike Hoffmeister +6 more
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Rare Association of Semilobar Holoprosencephaly and Frontonasal Encephalocoele in a Neonate of Twin Pregnancy [PDF]
Journal of Clinical and Diagnostic Research, 2021 Holoprosencephaly is a rare intracranial malformation seen in newborns, resulting from a failure of separation of the forebrain into separate cerebral hemispheres. It is divided into three subtypes-alobar, semilobar and lobar.
Varsha Rangankar +2 more
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Antenatal and Postnatal Diagnosis of Semilobar Holoprosencephaly: Two Case Reports
Global Pediatric Health, 2023 Holoprosencephaly (HPE) is a rare birth defect that occurs during the first few weeks of pregnancy. It results from a disturbance in the usual signaling pathways required for separation of the embryonic prosencephalon into 2 separate cerebral hemispheres.
Benmoussa Meryem +5 more
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Ethanol itself is a holoprosencephaly-inducing teratogen. [PDF]
PLoS ONE, 2017 Ethanol is a teratogen, inducing a variety of structural defects in developing humans and animals that are exposed in utero. Mechanisms of ethanol teratogenicity in specific defects are not well understood.
Mingi Hong, Robert S Krauss
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Holoprosencephaly in Patau Syndrome [PDF]
Revista Paulista de Pediatria, 2023 Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies.
Amanda de Souza Schlosser +6 more
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Pathogenesis of holoprosencephaly [PDF]
Journal of Clinical Investigation, 2009 Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology
Xin, Geng, Guillermo, Oliver
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Journal of the Formosan Medical Association, 2008 Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p.
Chih-Ping Chen +5 more
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