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Quoted phrase not found in phrase index: "Holoprosencephaly 8"
Page 1
Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.
Addissie YA, Kruszka P, Troia A, Wong ZC, Everson JL, Kozel BA, Lipinski RJ, Malecki KMC, Muenke M. Addissie YA, et al. Environ Health. 2020 Jun 8;19(1):65. doi: 10.1186/s12940-020-00611-z. Environ Health. 2020. PMID: 32513280 Free PMC article.
Early experimental evidence suggests an association between active ingredients in pesticides and holoprosencephaly (HPE), the most common malformation of the forebrain in humans (1 in 250 embryos). ...Cases were identified through the National Human Genome Research Institu …
Early experimental evidence suggests an association between active ingredients in pesticides and holoprosencephaly (HPE), the most co …
Central nervous system pathology in the amniotic rupture sequence.
Shannon P. Shannon P. Clin Neuropathol. 2020 Nov/Dec;39(6):288-299. doi: 10.5414/NP301266. Clin Neuropathol. 2020. PMID: 32589127
Eight had acalvaria or encephalocele, with facial clefts. All 8 had abnormal brains. Two cases demonstrated normal cerebral lobation with aqueductal stenosis/atresia (AS) and secondary changes. ...CONCLUSION: CNS pathology in ARS is strongly associated with craniofacial cl …
Eight had acalvaria or encephalocele, with facial clefts. All 8 had abnormal brains. Two cases demonstrated normal cerebral lobation …
Sirenomelia and cyclopia cluster in Cali, Colombia.
Castilla EE, Mastroiacovo P, López-Camelo JS, Saldarriaga W, Isaza C, Orioli IM. Castilla EE, et al. Am J Med Genet A. 2008 Oct 15;146A(20):2626-36. doi: 10.1002/ajmg.a.32506. Am J Med Genet A. 2008. PMID: 18798307
Birth prevalence rates for two sentinel anomalies, that is, anal and esophageal atresia for sirenomelia and oral clefts for DeMyer holoprosencephaly spectra, were not higher in Cali than in the rest of ECLAMC material. ...None was associated with cyclopia. Results from hai …
Birth prevalence rates for two sentinel anomalies, that is, anal and esophageal atresia for sirenomelia and oral clefts for DeMyer holopr …
Phenotypic variability in Patau syndrome.
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV. Caba L, et al. Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun;117(2):321-7. Rev Med Chir Soc Med Nat Iasi. 2013. PMID: 24340511
Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly. ...RESULTS: Of the 14 cases, 3 were evaluated pathologically (two aborted foetuses and one s …
Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microph …
Central Diabetes Insipidus in Infancy With or Without Hypothalamic Adipsic Hypernatremia Syndrome: Early Identification and Outcome.
Djermane A, Elmaleh M, Simon D, Poidvin A, Carel JC, Léger J. Djermane A, et al. J Clin Endocrinol Metab. 2016 Feb;101(2):635-43. doi: 10.1210/jc.2015-3108. Epub 2015 Nov 20. J Clin Endocrinol Metab. 2016. PMID: 26588450
MAIN OUTCOME MEASURES: The various causes of CDI were grouped. Clinical outcome and comorbidities were analyzed. RESULTS: Ten of the 12 patients had an underlying condition with brain malformations: optic nerve hypoplasia (n = 3), septo-optic dysplasia (n = 2), semilobar …
MAIN OUTCOME MEASURES: The various causes of CDI were grouped. Clinical outcome and comorbidities were analyzed. RESULTS: Ten of the …
Congenital nasal pyriform aperture stenosis: diagnosis and management.
Devambez M, Delattre A, Fayoux P. Devambez M, et al. Cleft Palate Craniofac J. 2009 May;46(3):262-7. doi: 10.1597/07-182.1. Epub 2008 Apr 11. Cleft Palate Craniofac J. 2009. PMID: 19642747
STUDY DESIGN: A 6-year retrospective case series review. Mean follow-up of 21.8 months. SETTING: University hospital, tertiary care center. PATIENTS: Twenty-one consecutive patients treated for congenital nasal pyriform aperture stenosis. ...CONCLUSION: Our experience conf …
STUDY DESIGN: A 6-year retrospective case series review. Mean follow-up of 21.8 months. SETTING: University hospital, tertiary care c …
Maternal caffeine intake during pregnancy and orofacial clefts.
Collier SA, Browne ML, Rasmussen SA, Honein MA; National Birth Defects Prevention Study. Collier SA, et al. Birth Defects Res A Clin Mol Teratol. 2009 Oct;85(10):842-9. doi: 10.1002/bdra.20600. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19591116
This analysis includes infants with cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO), excluding infants whose cleft was secondary to holoprosencephaly or amniotic band sequence. Mothers reported dietary caffeine intake from coffee, tea, sodas, and …
This analysis includes infants with cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO), excluding infants whose cleft …
Self-reported maternal smoking during pregnancy by source in Utah, 2003-2007.
Srisukhumbowornchai S, Krikov S, Feldkamp ML. Srisukhumbowornchai S, et al. Birth Defects Res A Clin Mol Teratol. 2012 Dec;94(12):996-1003. doi: 10.1002/bdra.23058. Epub 2012 Jul 23. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22821801
Compared to the CATI, data from the UBDN had a higher sensitivity (61.3%) and better agreement (kappa = 0.63) than birth certificates (51.8%; kappa = 0.56). Adjusted odds ratios for all and specific birth defects (i.e., holoprosencephaly, hydrocephalus, anophthalmia …
Compared to the CATI, data from the UBDN had a higher sensitivity (61.3%) and better agreement (kappa = 0.63) than birth certificates (51. …
Maternal obesity, gestational diabetes, and central nervous system birth defects.
Anderson JL, Waller DK, Canfield MA, Shaw GM, Watkins ML, Werler MM. Anderson JL, et al. Epidemiology. 2005 Jan;16(1):87-92. doi: 10.1097/01.ede.0000147122.97061.bb. Epidemiology. 2005. PMID: 15613950
Cases (n=477) were mothers of offspring with anencephaly (n=120), spina bifida (n=184), holoprosencephaly (n=49), or isolated hydrocephaly (n=124). Controls (n=497) were mothers of live infants without abnormalities randomly selected from the same hospitals as cases …
Cases (n=477) were mothers of offspring with anencephaly (n=120), spina bifida (n=184), holoprosencephaly (n=49), or isolated hydroce …
12 results