holoprosencephaly/cyclopia

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Cyclopia-astomia-agnathia-holoprosencephaly association: a case report.

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A female infant is described with cyclopia-astomia-agnathia-holoprosencephaly association. The authors discuss whether the use of salicylates in early pregnancy is implicated.

Holoprosencephaly and cyclopia visualized by two- and three-dimensional prenatal ultrasound.

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We report on the ultrasound (US) detection of holoprosencephaly with cyclopia at a gestational age of 16 weeks. The sonographic diagnosis was based on the intracranial finding of fused thalami with no visible midline structures and facial abnormalities, including cyclopia and proboscis. We evaluated

Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester.

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We would like to present a rare case of alobar holoprosencephaly (HPE) in a fetus diagnosed by routine sonography in the second trimester. Structural sonography demonstrated multiple facial anomalies including absent nasal bone, flat facial profile, hypotelorism, fusion of the orbits and proboscis.

The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

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The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in

3-D reconstruction of a human fetus with combined holoprosencephaly and cyclopia.

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BACKGROUND The purpose of this study was to examine a human fetus with combined holoprosencephaly and cyclopia by means of histology and 3-D reconstruction to determine the internal structure and extent of the malformation. METHODS The head from a human fetus at 20 weeks gestation and a diagnosis of

Cyclopia and proboscis - the extreme end of holoprosencephaly.

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Holoprosencephaly (HPE), a major congenital abnormality in brain development is characterized by the absence or incomplete cleavage of prosencephalon into separate hemispheres, with cyclopia as the extreme manifestation of HPE, presenting as a failure of embryonic prosencephalon to properly divide

[Imaging evaluation of an alobar holoprosencephaly with cyclopia].

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A case of an alobar holoprosencephaly with cyclopia diagnosed by prenatal ultrasound is reported. At 23 weeks of gestation, abortion was performed. The holoprosencephalic aborted foetus was studied as completely as possible. Skull X-rays, cranial computed tomography, and magnetic resonance images

Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center.

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Holoprosencephaly, a major congenital malformation of the brain, consists in a complete or partial failure of the prosencephalon to divide into separate hemispheres. Alobar holoprosencephaly with cyclopia was analyzed on the basis of autopsy reports performed for hospitals admitting patients from

Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome.

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Holoprosencephaly is a brain malformation that develops as a result of a defect in development of prosencephalon during early gestation. Holoprosencephaly can be diagnosed with prenatal ultrasonography and magnetic resonance imaging. We report herein a case with cyclopia and holoprosencephaly

Holoprosencephaly with cyclopia--report of a pathological study.

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A rare case of a lobar holoprosencephaly with cyclopia, associated with non-nervous system anomalies is being reported.

[Diagnosis of holoprosencephaly with cyclopia in the fetus].

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The typical ultrasound findings in cases of fetal holoprosencephaly with hypotelorism and cyclopia are explained with reference to a case history. Hypotelorism was confirmed by measurement of the distance between the orbits of the fetus.

Cyclopia-otocephaly association: a new case of the most severe variant of agnathia-holoprosencephaly complex.

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This report describes a new case of true cyclopia with otocephaly and additional brain malformations (alobar holoprosencephaly). This is a very rare occurrence involving lack of cleavage of the prosencephalon and disturbed development of the first branchial arch. An inductive defect of the

Prenatal ultrasonographic diagnosis of holoprosencephaly. Two cases of cebocephaly and two of cyclopia.

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Four instances of ultrasonographic detection of holoprosencephaly, one during the second and three during the third trimester of gestation, are reported. Horizontal scans of the skull showed absence of midline structures, communication between the lateral ventricles and reduction of the brain mass,

First trimester diagnosis of holoprosencephaly and cyclopia with triploidy by transvaginal three-dimensional ultrasonography.

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We present the prenatal three-dimensional (3D) ultrasound findings in a case of holoprosencephaly and cyclopia at 11 weeks gestation. Only holoprosencephaly with missing cyclopia were initially diagnosed because suboptimal views of the fetal face were obtained with transvaginal two-dimensional (2D)

Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain.

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Four very early synophthalmic embryos were studied in serial sections and reconstructed graphically by the point-plotting method. Three belonged to stage 16 (5 weeks) and one to stages 19/20 (7 weeks). Recently completed accounts and reconstructions of the normal brains of staged human embryos

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