Results 21 to 30 of about 10,496 (209)
Prenatal Diagnosis of Alobar Holoprosencephaly with Cystic Hygroma
Taiwanese Journal of Obstetrics & Gynecology, 2006 Objective: Holoprosencephaly is a kind of brain anomaly characterized by inadequate cleavage of the prosencephalon during early embryogenesis. In addition, holoprosencephaly associated with cystic hygroma and hydrops fetalis has never been reported.
Tsung-Ying Hsieh +3 more
doaj +1 more source
Middle Interhemispheric Variant of Holoprosencephaly – Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus [PDF]
Journal of Clinical and Diagnostic Research, 2015 Middle Interhemispheric variant (MIH) is a rare subtype of holoprosencephaly (HPE), also known as syntelencephaly. We present a case of MIH, which was diagnosed as an interhemispheric cyst on antenatal sonography at 19 weeks, but later diagnosed as MIH ...
Akhila Vasudeva +4 more
doaj +1 more source
Methanol and isopropanol embryo dosage response curves for wild-type and ethanol-sensitive zebrafish [PDF]
, 2016 It is well established that ethanol has an array of negative effects on developing embryos, from craniofacial abnormalities to cognitive deficits and behavioral disorders.
Anderson, Ashley
core +1 more source
NewbornCitation: 'holoprosencephaly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10803 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Thierry AGM Huisman, Thierry AGM Huisman
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Antenatally diagnosed alobar holoprosencephaly: A report of two cases
CHRISMED Journal of Health and Research, 2017 Holoprosencephaly is a complex developmental abnormality of the brain arising from the failure of cleavage of the prosencephalon. The condition termed “holoprosencephaly” includes cyclopia, cebocephaly, ethmocephaly, and median cleft.
C R Srinivasa Babu +3 more
doaj +1 more source
Journal of Medical Case Reports, 2018 Background The term holoprosencephaly was proposed by DeMyer and Zeman. It is a developmental defect of the embryonic forebrain with heterogeneous etiology including genetic and environmental factors.
Ahmed Amdihun Essa +2 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2017 Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal ...
André Travessa +3 more
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Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly. [PDF]
PLoS ONE, 2012 Coding region alterations of ZIC2 are the second most common type of mutation in holoprosencephaly (HPE). Here we use several complementary bioinformatic approaches to identify ultraconserved cis-regulatory sequences potentially driving the expression of
Erich Roessler +12 more
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Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]
, 2017 The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia +7 more
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Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence [PDF]
Journal of Clinical and Diagnostic Research, 2016 Holoprosencephaly is a rare congenital disorder which results from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees.
Tejaswini Priyadarshan Waghmare +3 more
doaj +1 more source