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Cyclopia: Facial deformity indicating severe holoprosencephaly with imaging findings of brain: A case report [PDF]

open access: yesRadiology Case Reports
Holoprosencephaly 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
doaj   +2 more sources

First Case Report of Agnathia-Otocephaly Complex Reported in Niger. [PDF]

open access: yesClin Case Rep
ABSTRACT Agnathia–otocephaly complex (AOC) is an extremely rare congenital malformation resulting from a disorder of the first branchial arch. In the past, this condition was considered lethal. However, milder variants of the isolated type of AOC have been reported as non‐lethal.
Diaouga HS   +3 more
europepmc   +2 more sources

Hydranencephaly in Neonate With Prenatal Exposure to Alcohol During Pregnancy. [PDF]

open access: yesClin Case Rep
ABSTRACT Hydranencephaly (HE) is a rare congenital condition characterized by near‐total absence of the cerebral hemispheres, replaced by cerebrospinal fluid, most commonly resulting from in utero bilateral internal carotid artery occlusion; although maternal alcohol consumption is associated with fetal neurodevelopmental abnormalities, its direct role
Chaudhary DR   +3 more
europepmc   +2 more sources

Semilobar holoprosencephaly associated with maternal diabetes in a toddler: A case report [PDF]

open access: yesRadiology Case Reports
Holoprosencephaly is a rare congenital malformation of the forebrain caused by incomplete division of the prosencephalon during early embryonic development, and semilobar holoprosencephaly represents the intermediate form of the spectrum.
Cihan Çelik   +2 more
doaj   +2 more sources

Maternal Fish Intake in the Year Prior to Conception and Birth Defects, National Birth Defects Prevention Study, 1997-2011. [PDF]

open access: yesBirth Defects Res
ABSTRACT Background Epidemiologic data on the association between maternal fish intake and birth defects are sparse. Our objective was to assess associations between maternal fish intake and 52 different birth defects, most of which have not been assessed previously.
Waller DK   +10 more
europepmc   +2 more sources

Congenital external hydrocephalus: A rare presentation of lobar holoprosencephaly in a neonate [PDF]

open access: yesRadiology Case Reports
External 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
doaj   +2 more sources

The assessment of holoprosencephaly cases in the last 10 years [PDF]

open access: yesĶazaķstannyṇ 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
doaj   +1 more source

Semilobar Holoprosencephaly with Cebocephaly: A Case Report

open access: yesJournal of College of Medical Sciences-Nepal, 2021
Holoprosencephaly is a rare congenital malformation affecting 6 to 12:10,000 live-born infants and is characterized by failure of separation of cerebral hemispheres.
Jeevan Jyothish, Rituparna Das
doaj   +1 more source

EARLY-ONSET CENTRAL DIABETES INSIPIDUS IN A NEWBORN WITH HOLOPROSENCEPHALY

open access: yesİstanbul 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
doaj   +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

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