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Relevant bibliographies by topics / Holoprosencephaly(HPE)

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Academic literature on the topic 'Holoprosencephaly(HPE)'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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Journal articles on the topic "Holoprosencephaly(HPE)"

1

Callahan, Jodi, Casey Harmon, John Aleshire, Bill Hickey, and Brandy Jones. "Alobar Holoprosencephaly With Cebocephaly." Journal of Diagnostic Medical Sonography 33, no. 1 (2016): 39–42. http://dx.doi.org/10.1177/8756479316664477.

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Holoprosencephaly (HPE) is a complex brain malformation caused by incomplete fusion of cleavage of the cerebral hemispheres and deep brain structures affecting 6 to 12:10,000 live-born infants. There are three categories of HPE ranging in severity, with alobar holoprosencephaly being the most severe, followed by semilobar holoprosencephaly, and lobar holoprosencephaly being the mildest form. Facial anomalies as well as chromosome anomalies are often associated with HPE. This case study describes a transabdominal sonographic diagnosis of alobar HPE with cebocephaly originally found at 27 weeks

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Munteanu, Alexandra, Cringu A. Ionescu, and Dan Navolan. "How to understand Holoprosencephaly." Donald School Journal of Ultrasound in Obstetrics and Gynecology 11, no. 4 (2017): 282–87. http://dx.doi.org/10.5005/jp-journals-10009-1534.

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ABSTRACT Holoprosencephaly (HPE) is a group of complex structural malformations of the forebrain that results from complete or incomplete nonseparation of the prosencephalon that yields an incomplete division of the cerebral hemispheres and of the telencephalon from the diencephalon. According to the severity of the malformation, HPE is categorized into four subtypes: Alobar HPE, semilobar HPE, lobar HPE, and a middle interhemispheric fusion variant (syntelencephaly). The incidence of HPE is 1 in 10,000 to 15,000 births. The etiology of HPE is very heterogeneous, and the identified causes unti

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3

Halim, H. "Alobar Holoprosencephaly : A Case Report." Journal of Medical Science And clinical Research 11, no. 12 (2023): 13–17. http://dx.doi.org/10.18535/jmscr/v11i12.03.

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Holoprosencephaly (HPE) consists of a spectrum of malformations related to incomplete separation of the prosencephalon. It occurs between the 18th and the 28th day of gestation and affects both the forebrain and the face. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. Alobar HPE, the most common and most severe type of HPE, can be diagnosed in the first trimester of pregnancy using ultrasound. Among survivors, the long-term outcome is poor and depends on the type and severity of the pathology as well as associated anomalies. Keywords : Holoprosencephaly, Alobar, Malfor

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Bullen, PJ, and SC Robson. "Holoprosencephaly." Fetal and Maternal Medicine Review 12, no. 1 (2001): 1–21. http://dx.doi.org/10.1017/s0965539501000110.

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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. The closely related development of the mid-face area is frequently disturbed, with coexisting facial phenotypes ranging from cyclopia to normal.

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5

International, Journal of Medical Science and Innovative Research (IJMSIR). "Holoprosencephaly – Case Reports of A Rare Neurological Malformation." 2458-8687 9, no. 6 (2024): 07–12. https://doi.org/10.5281/zenodo.15448661.

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<strong>Abstract</strong> Holoprosencephaly (HPE) is a complex structural anomaly of the developing forebrain caused by incomplete division of prosencephalon into two separate hemispheres and ventricles resulting in dysmorphism of brain and face and neurological impairment. HPE has incidence rate of 1:250 in utero and the live birth rate is 1:16,000. It is classified into three types based on the degree of cerebral involvement; lobar, semi-lobar and alobar. There are various etiological factors involved in causation of Holoprosencephaly including environmental, chromosomal and genetic syndrome

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6

Khanna, Dolly, and Karandeep S. Bhatti. "Antenatal diagnosis of alobar holoprosencephaly." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, no. 5 (2020): 2184. http://dx.doi.org/10.18203/2320-1770.ijrcog20201832.

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Holoprosencephaly (HPE), a congenital induction disorder, occurs due to failed segmentation of neural tube and subsequent incomplete separation of the prosencephalon. Because of the defect in the ventral induction, HPE is also associated with multiple facial abnormalities. Mortality correlates with the severity of brain malformation and facial phenotype. Frequent causes of death include respiratory infections, dehydration due to uncontrolled diabetes insipidus, intractable seizures, and brainstem malfunction. This is a case of Alobar holoprosencephaly in the fetus of a 31-year-old G2P1 female,

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7

Meryem, Benmoussa, Naggar Amine, Oukili Houssein, El Haddad Siham, Allali Nazik, and Chat Latifa. "Antenatal and Postnatal Diagnosis of Semilobar Holoprosencephaly: Two Case Reports." Global Pediatric Health 10 (January 2023): 2333794X2311560. http://dx.doi.org/10.1177/2333794x231156037.

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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. Classically four subtypes have been recognized: alobar, semilobar, lobar, and middle interhemispheric holoprosencephaly. The cause of HPE is unknown but may include genetic disorders. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-norm

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8

D., Sunilkumar, Kiran M., Subathra A., and Nagarajan K. "Persistent Fetal Trigeminal Artery with Septopreoptic Holoprosencephaly: Report of an Unusual Association." Journal of Pediatric Neurology 18, no. 05 (2019): 231–35. http://dx.doi.org/10.1055/s-0039-1692139.

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AbstractSeptopreoptic holoprosencephaly (HPE) is a type of HPE characterized by failure of separation of the septal and preoptic regions. Vascular anomalies associated with septopreoptic HPE include twig-like cerebral vessels and azygos anterior cerebral artery, the latter common to all forms of HPE. Here, we describe an 8-year-old boy presenting with developmental delay and abnormal movements who was found to have septopreoptic HPE associated with persistent trigeminal artery in magnetic resonance neuroimaging. This persistence of fetal trigeminal artery in HPE provides a further understandin

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9

Nonkulovski, D., A. Sofijanova, T. Spasovska, Milanovski Gorjan, Lj Muaremoska-Kanzoska, and T. Arsov. "Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant." Balkan Journal of Medical Genetics 25, no. 2 (2022): 71–76. http://dx.doi.org/10.2478/bjmg-2022-0017.

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ABSTRACT Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is very variable. We report a case of a 7 month old female infant, diagnosed with non-syndromic semilobar holoprosencephaly, caused by a novel, de novo pathogenic variant in ZIC2 - one of the most commonly mutated genes in non-syndromic HPE coding for the ZIC2 transcription factor. The patient

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10

Jalal, Mohammed, Imane El Abbassi, Ayoub Amghar, Amine Lamrissi, and Said Bouhya. "Alobar holoprosencephaly: A case report." Edorium Journal of Gynecology and Obstetrics 7, no. 2 (2023): 1–4. http://dx.doi.org/10.5348/100032g06mj2023cr.

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Introduction: Holoprosencephaly (HPE) is a rare brain malformation, which results from a cleavage defect of the prosencephalon. Three forms have been described as: alobar, semi-lobar, and lobar forms. Case Report: We report a rare case of holoprosencephaly, diagnosed at the maternity of the Ibn Rochd Hospital Center in Casablanca. Conclusion: Holoprosencephaly is secondary to a cleavage anomaly of the prosencephalon, the diagnosis is based on echotomography, computed tomography (CT) scan and nuclear magnetic resonance imaging (MRI). It is important to perform a karyotype to look for a chromoso

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Book chapters on the topic "Holoprosencephaly(HPE)"

1

Firth, Helen V., Jane A. Hurst, and Judith G. Hall. "Holoprosencephaly (HPE)." In Oxford Desk Reference - Clinical Genetics. Oxford University Press, 2005. http://dx.doi.org/10.1093/med/1.1.med-9780192628961-div1-002032.

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2

Monuki, E. S. "Forebrain Development: Holoprosencephaly (HPE)." In Encyclopedia of Neuroscience. Elsevier, 2009. http://dx.doi.org/10.1016/b978-008045046-9.01077-9.

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