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54 results

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Page 1
Prenatal diagnosis of holoprosencephaly.
Kousa YA, du Plessis AJ, Vezina G. Kousa YA, et al. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):206-213. doi: 10.1002/ajmg.c.31618. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29770996 Review.
Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. ...Using an advanced MRI protocol and a 1.5-Tesla magnet, we show radiographic data diagnostic for the holoprosencep …
Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral …
Teratogenesis of holoprosencephaly.
Cohen MM Jr, Shiota K. Cohen MM Jr, et al. Am J Med Genet. 2002 Apr 15;109(1):1-15. doi: 10.1002/ajmg.10258. Am J Med Genet. 2002. PMID: 11932986 Review.
Teratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by four tables summarizing etiologic factors. Subjects evaluated here include: 1) maternal diabetes; 2) ethyl alcohol; 3) retinoic acid; 4) mutat …
Teratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by fo …
Neurosonoembryology by three-dimensional ultrasound.
Pooh RK. Pooh RK. Semin Fetal Neonatal Med. 2012 Oct;17(5):261-8. doi: 10.1016/j.siny.2012.05.008. Epub 2012 Jul 15. Semin Fetal Neonatal Med. 2012. PMID: 22800609 Review.
Three-dimensional ultrasound has facilitated increasingly accurate and objective prenatal diagnoses of cranium bifidum/spina bifida, holoprosencephaly and associated anomalies in the first trimester and may allow detection of pathologic central nervous system (CNS) develop …
Three-dimensional ultrasound has facilitated increasingly accurate and objective prenatal diagnoses of cranium bifidum/spina bifida, holo …
Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: review of literature and prenatal case series.
Tavano I, De Keersmaecker B, Aertsen M, De Catte L. Tavano I, et al. J Matern Fetal Neonatal Med. 2022 Dec;35(25):4976-4984. doi: 10.1080/14767058.2021.1873942. Epub 2021 Jan 17. J Matern Fetal Neonatal Med. 2022. PMID: 33455493 Review.
OBJECTIVE: Middle interhemispheric (MIH) variant of holoprosencephaly (HPE) or syntelencephaly is a rare prosencephalic cleavage disorder. ...Frequent association with ZIC2 mutation was found in nearly 50% of the cases (5/11) compared with one case in our series. CO …
OBJECTIVE: Middle interhemispheric (MIH) variant of holoprosencephaly (HPE) or syntelencephaly is a rare prosencephalic cleavage diso …
[MRI and CT in the diagnosis of epilepsy].
Takanashi J. Takanashi J. Nihon Rinsho. 2014 May;72(5):819-26. Nihon Rinsho. 2014. PMID: 24912281 Review. Japanese.
In this article, I reviewed radiological findings associated with seizures (reduced diffusion and swelling of hippocampus and cortex, and a reversible splenial lesion), and lesions causing epilepsy and seizures, such as congenital abnormality of the brain (holoprosencephaly …
In this article, I reviewed radiological findings associated with seizures (reduced diffusion and swelling of hippocampus and cortex, and a …
Holoprosencephaly.
Peebles DM. Peebles DM. Prenat Diagn. 1998 May;18(5):477-80. Prenat Diagn. 1998. PMID: 9621381 Review. No abstract available.
Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.
Cater SW, Boyd BK, Ghate SV. Cater SW, et al. Radiographics. 2020 Sep-Oct;40(5):1458-1472. doi: 10.1148/rg.2020200034. Epub 2020 Jul 24. Radiographics. 2020. PMID: 32706613 Review.
Ventricular anomalies include aqueductal stenosis. Midline disorders include those on the spectrum of holoprosencephaly, agenesis of the corpus callosum, and septo-optic dysplasia. ...
Ventricular anomalies include aqueductal stenosis. Midline disorders include those on the spectrum of holoprosencephaly, agenesis of …
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC, Dattani MT. Gregory LC, et al. J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz184. doi: 10.1210/clinem/dgz184. J Clin Endocrinol Metab. 2020. PMID: 31702014 Review.
CONTEXT: Congenital hypopituitarism (CH) is characterized by the presence of deficiencies in one or more of the 6 anterior pituitary (AP) hormones secreted from the 5 different specialized cell types of the AP. During human embryogenesis, hypothalamo-pituitary (HP) develop …
CONTEXT: Congenital hypopituitarism (CH) is characterized by the presence of deficiencies in one or more of the 6 anterior pituitary (AP) ho …
Imaging of facial anomalies.
Castillo M, Mukherji SK. Castillo M, et al. Curr Probl Diagn Radiol. 1995 Sep-Oct;25(5):169-88. Curr Probl Diagn Radiol. 1995. PMID: 8889386 Review.
Most of these deformities are isolated, but some patients with facial clefts, notably the midline cleft syndrome and holoprosencephaly, have anomalies in other sites. This is important because these patients will require detailed imaging of the face and brain. ...Complex f …
Most of these deformities are isolated, but some patients with facial clefts, notably the midline cleft syndrome and holoprosencephaly …
Development of the facial midline.
Carstens MH. Carstens MH. J Craniofac Surg. 2002 Jan;13(1):129-87; discussion 188-90. doi: 10.1097/00001665-200201000-00032. J Craniofac Surg. 2002. PMID: 11887012 Review.
These experiments relate the nasal placode to the structures of the A fields. (5) Separate regions of the original nasal placodes give rise to neurons, which are dedicated to separate sensory and endocrine systems. The A fields constitute the pathways by which these neuron …
These experiments relate the nasal placode to the structures of the A fields. (5) Separate regions of the original nasal placodes giv …
54 results