Results 21 to 30 of about 11,012 (235)

Holoprosencephaly Variant

open access: yesPediatric Neurology Briefs, 2003
The clinical manifestations in 15 patients (6 boys and 9 girls) with middle interhemispheric variant (MIH) of holoprosencephaly (HPE) were compared with classic subtypes (alobar, semilobar, and lobar) of HPE in a multicenter study at Stanford University ...
J Gordon Millichap
doaj   +2 more sources

Severe Holoprosencephaly With Arhinencephaly in A Liveborn Neonate: A Case Report. [PDF]

open access: yesClin Case Rep
Physical examination revealed a‐hypotelorism, b‐arhinia, and c‐cleft lip and palate. ABSTRACT Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from incomplete separation of the cerebral hemispheres. It has an estimated prevalence of 1 in 10,000 live births.
Kebbeh SK, Nawfal HI.
europepmc   +2 more sources

The neonate was born with holoprosencephaly [PDF]

open access: yesIranian Journal of Neonatology, 2014
holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies.
reza saeidi, abdolhosein abasi
doaj   +2 more sources

Holoprosencephaly (HPE) : case report and review of the literature

open access: yesInternational journal of surgery case reports, 2023
Introduction Holoprosencephaly (HPE) is a complex brain malformation resulting from a medial cleavage defect of the prosencephalon into right and left hemispheres, occurring during early embryonic development.
Watik Fedoua   +5 more
semanticscholar   +1 more source

Prenatal Alcohol Exposure as a Potential Contributor to Hydranencephaly: Clinical and Neurodevelopmental Perspectives. [PDF]

open access: yesClin Case Rep
ABSTRACT Hydranencephaly is traditionally attributed to prenatal vascular disruption; however, chronic prenatal alcohol exposure may contribute through neurotoxicity, placental dysfunction, oxidative stress, and vascular injury. Given the biological plausibility of this association, alcohol abstinence during pregnancy remains essential, and further ...
Elendu C   +4 more
europepmc   +2 more sources

The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes

open access: yesInternational Journal of Molecular Sciences, 2021
The Hedgehog (HH) signalling pathway is one of the major pathways controlling cell differentiation and proliferation during human development. This pathway is complex, with HH function influenced by inhibitors, promotors, interactions with other ...
C. Loo, Michael A. Pearen, G. Ramm
semanticscholar   +1 more source

Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2015
Agnathia, holoprosencephaly and situs inversus complex is an extremely rare form of congenital malformation. Though a few cases have been reported from other parts of the world, to the best of our knowledge none has been reported from India so far ...
Dibyajyoti Goswami, Giriraj Kusre
doaj   +1 more source

Tiga Kasus Holoprosensefal Alobar dengan Variasi Gambaran Klinis:Diagnosis Ultrasonografi

open access: yesObgynia, 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
doaj   +1 more source

The ubiquitin E3 ligase NOSIP modulates protein phosphatase 2A activity in craniofacial development. [PDF]

open access: yesPLoS 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
doaj   +1 more source

Rare Association of Semilobar Holoprosencephaly and Frontonasal Encephalocoele in a Neonate of Twin Pregnancy [PDF]

open access: yesJournal 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
doaj   +1 more source

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