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Page 1
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. There is little known about how best to counsel and support families receiving the diagnosis. ...Religious and personal beli …
OBJECTIVES: Parents receiving a prenatal diagnosis of alobar holoprosencephaly (HPE) often experience uncertainty regarding the pregnancy …
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.
Pavone P, Praticò AD, Vitaliti G, Ruggieri M, Rizzo R, Parano E, Pavone L, Pero G, Falsaperla R. Pavone P, et al. Ital J Pediatr. 2014 Oct 18;40:79. doi: 10.1186/s13052-014-0079-1. Ital J Pediatr. 2014. PMID: 25326191 Free PMC article. Review.
The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months.Hydranencephaly is an isolated and with a severe prognosis abnormality, affecting the ce …
The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected …
Prenatal neurologic anomalies: sonographic diagnosis and treatment.
De Catte L, De Keersmaeker B, Claus F. De Catte L, et al. Paediatr Drugs. 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. Paediatr Drugs. 2012. PMID: 22242843 Review.
Most intracranial hemorrhages are related to the ventricular system, and prognosis is often poor, particularly in cases involving parenchymal and subdural bleeding. ...
Most intracranial hemorrhages are related to the ventricular system, and prognosis is often poor, particularly in cases involving par …
Holoprosencephaly in neonates.
Ram SP, Noor AR, Mahbar Z, Krishna TN. Ram SP, et al. Int J Pediatr Otorhinolaryngol. 1994 Mar;29(1):65-71. doi: 10.1016/0165-5876(94)90110-4. Int J Pediatr Otorhinolaryngol. 1994. PMID: 8169049
Diagnosis of fetal defects in twin pregnancies at routine 11-13-week ultrasound examination.
Syngelaki A, Cimpoca B, Litwinska E, Akolekar R, Nicolaides KH. Syngelaki A, et al. Ultrasound Obstet Gynecol. 2020 Apr;55(4):474-481. doi: 10.1002/uog.21938. Epub 2020 Mar 6. Ultrasound Obstet Gynecol. 2020. PMID: 31788879 Free article.
Fourth, in twin pregnancies with a fetal defect, there is higher intertwin discordance in CRL and incidence of increased NT, but the predictive performance of screening by these markers is poor. Copyright 2019 ISUOG. ...
Fourth, in twin pregnancies with a fetal defect, there is higher intertwin discordance in CRL and incidence of increased NT, but the pred …
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
Drissi I, Fletcher E, Shaheen R, Nahorski M, Alhashem AM, Lisgo S, Fernández-Jaén A, Schon K, Tlili-Graiess K, Smithson SF, Lindsay S, J Sharpe H, Alkuraya FS, Woods G. Drissi I, et al. J Med Genet. 2022 Apr;59(4):358-365. doi: 10.1136/jmedgenet-2020-107237. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820834 Free PMC article.
METHODS: We describe two families in which offspring had holoprosencephaly spectrum and homozygous predicted-deleterious variants in phospholipase C eta-1 (PLCH1). Immunocytochemistry was used to examine the expression pattern of PLCH1 in human embryos. ...
METHODS: We describe two families in which offspring had holoprosencephaly spectrum and homozygous predicted-deleterious variants in …
The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.
Gondré-Lewis MC, Gboluaje T, Reid SN, Lin S, Wang P, Green W, Diogo R, Fidélia-Lambert MN, Herman MM. Gondré-Lewis MC, et al. J Anat. 2015 Sep;227(3):255-67. doi: 10.1111/joa.12343. J Anat. 2015. PMID: 26278930 Free PMC article.
An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. ...
An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influen …
24 results