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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Cyclopia: Facial deformity indicating severe holoprosencephaly with imaging findings of brain: A case report [PDF]
Radiology Case ReportsHoloprosencephaly results from incomplete separation of the cerebral hemispheres. Cyclopia is a facial manifestation of Holoprosencephaly, characterized by a midline single orbit and proboscis.
Shiva Aryal, MBBS +3 more
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Congenital external hydrocephalus: A rare presentation of lobar holoprosencephaly in a neonate [PDF]
Radiology Case ReportsExternal hydrocephalus is a rare condition characterized by abnormal cerebrospinal fluid (CSF) accumulation in the subarachnoid space, often associated with developmental anomalies.
Rakshanda Agrawal, MBBS +4 more
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The assessment of holoprosencephaly cases in the last 10 years [PDF]
Ķazaķstannyṇ Klinikalyķ Medicinasy, 2021 Holoprosencephaly is a disorder of cleavage failure or incomplete differentiation of the forebrain structures. Chromosomal anomalies and environmental teratogenic factors play a role in its development. We reported 22 cases of holoprosencephaly diagnosed
Hulusi Goktug Gurer +2 more
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EARLY-ONSET CENTRAL DIABETES INSIPIDUS IN A NEWBORN WITH HOLOPROSENCEPHALY
İstanbul Tıp Fakültesi Dergisi, 2021 Holoprosencephaly is a complex brain malformation caused by the inability of the prosencephalon to divide to form the cerebral hemispheres. Central diabetes insipidus (CDI), as a result of a defect in vasopressin release, may be seen due to the abnormal ...
Mustafa Törehan Aslan +2 more
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Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother [PDF]
Journal 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
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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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