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Quoted phrase not found in phrase index: "Holoprosencephaly 5"
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 …
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 …
Holoprosencephaly: antenatal and postnatal diagnosis and outcome.
Kaliaperumal C, Ndoro S, Mandiwanza T, Reidy F, McAuliffe F, Caird J, Crimmins D. Kaliaperumal C, et al. Childs Nerv Syst. 2016 May;32(5):801-9. doi: 10.1007/s00381-016-3015-4. Epub 2016 Jan 15. Childs Nerv Syst. 2016. PMID: 26767839
OBJECTIVES: The objectives of this study are to ascertain the clinical outcome and overall survival of holoprosencephaly (HPE) patients diagnosed antenatally and postnatally, to determine the accuracy of antenatal diagnosis and to determine the role of neurosurgical interv …
OBJECTIVES: The objectives of this study are to ascertain the clinical outcome and overall survival of holoprosencephaly (HPE) patien …
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 …
Alobar holoprosencephaly: Exploring mothers' perspectives on prenatal decision-making and prognostication.
Elfarawi H, Tolusso L, McGowan ML, Cortezzo D, Vawter-Lee M. Elfarawi H, et al. Prenat Diagn. 2022 May;42(5):617-627. doi: 10.1002/pd.6130. Epub 2022 Mar 10. Prenat Diagn. 2022. PMID: 35253927
OBJECTIVES: Parents receiving a prenatal diagnosis of alobar holoprosencephaly (HPE) often experience uncertainty regarding the pregnancy prognosis. ...
OBJECTIVES: Parents receiving a prenatal diagnosis of alobar holoprosencephaly (HPE) often experience uncertainty regarding the pregn …
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 …
The role of routine first-trimester ultrasound screening for central nervous system abnormalities: a longitudinal single-center study using an unselected cohort with 3-year experience.
Hu Y, Sun L, Feng L, Wang J, Zhu Y, Wu Q. Hu Y, et al. BMC Pregnancy Childbirth. 2023 May 3;23(1):312. doi: 10.1186/s12884-023-05644-z. BMC Pregnancy Childbirth. 2023. PMID: 37138220 Free PMC article.
The detection rates of CNS anomalies by ultrasound in the first, second, third and late third trimester were 32%, 22%, 25%, and 16%, respectively. And there were 5% of CNS anomalies missed by prenatal ultrasound. In the first-trimester scan, we diagnosed all cases of exenc …
The detection rates of CNS anomalies by ultrasound in the first, second, third and late third trimester were 32%, 22%, 25%, and 16%, respect …
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 …
The 11-13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis.
Kagan KO, Staboulidou I, Syngelaki A, Cruz J, Nicolaides KH. Kagan KO, et al. Ultrasound Obstet Gynecol. 2010 Jul;36(1):10-4. doi: 10.1002/uog.7646. Ultrasound Obstet Gynecol. 2010. PMID: 20564304 Free article.
OBJECTIVE: To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11-13 weeks of gestation. ...Chromosomal abnormalities, mainly trisomies 18 and 13, were found in 65.9% of fetuses with holoprosencephaly, in …
OBJECTIVE: To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11-13 we …
Clinical spectrum of orbital and ocular abnormalities on fetal MRI.
Jacobs E, Whitehead MT. Jacobs E, et al. Pediatr Radiol. 2023 Jan;53(1):121-130. doi: 10.1007/s00247-022-05439-y. Epub 2022 Jul 22. Pediatr Radiol. 2023. PMID: 35867110
Genetic and clinical diagnoses were recorded from the medical record. RESULTS: Seventy-six of 3,085 fetuses (2.5%) were diagnosed with ocular and/or globe abnormalities; 50% had postnatal follow-up MR exams, all confirming the fetal MRI findings. ...The most common diagnos …
Genetic and clinical diagnoses were recorded from the medical record. RESULTS: Seventy-six of 3,085 fetuses (2.5%) were diagnosed wit …
176 results