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Page 1
The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study.
Schrager NL, Parker SE, Werler MM; for the National Birth Defects Prevention Study. Schrager NL, et al. Birth Defects Res. 2023 Feb 1;115(3):275-289. doi: 10.1002/bdr2.2096. Epub 2022 Sep 27. Birth Defects Res. 2023. PMID: 36168701
Over-the-counter antiemetic use, compared to untreated NVP, was associated with 10% increase in risk for nine defect groups (heterotaxy, hypoplastic left heart syndrome [HLHS], aortic stenosis, cataracts, anophthalmos/microphthalmos, biliary atresia, transverse limb …
Over-the-counter antiemetic use, compared to untreated NVP, was associated with 10% increase in risk for nine defect groups (heterotaxy, hyp …
Broad Spectrum epidemiological contribution of cannabis and other substances to the teratological profile of northern New South Wales: geospatial and causal inference analysis.
Reece AS, Hulse GK. Reece AS, et al. BMC Pharmacol Toxicol. 2020 Nov 12;21(1):75. doi: 10.1186/s40360-020-00450-1. BMC Pharmacol Toxicol. 2020. PMID: 33183341 Free PMC article.
Exomphalos and gastroschisis had the highest NNSW:QLD PR (6.29(2.94-13.48) and 5.85(3.54-9.67)) and attributable fraction in the exposed (84.11%(65.95-92.58%) and 82.91%(71.75-89.66%), P = 2.83 10(- 8) and P = 5.62 10(- 15)). ...In linear modelling cannabis use was signifi …
Exomphalos and gastroschisis had the highest NNSW:QLD PR (6.29(2.94-13.48) and 5.85(3.54-9.67)) and attributable fraction in the exposed (84 …
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. ...An important issue in confirming the phenotypic variability of Patau syn …
Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, …
Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity.
Hoeltzenbein M, Stieler K, Panse M, Wacker E, Schaefer C. Hoeltzenbein M, et al. PLoS One. 2013 Jun 19;8(6):e66637. doi: 10.1371/journal.pone.0066637. Print 2013. PLoS One. 2013. PMID: 23840514 Free PMC article.
It is mainly used for the treatment of hyperuricemia in patients with gout or tumor lysis syndrome. Experience with allopurinol in pregnancy is scarce. In 2011, Kozenko et al. reported on a child with multiple malformations after maternal treatment with allopurinol through …
It is mainly used for the treatment of hyperuricemia in patients with gout or tumor lysis syndrome. Experience with allopurinol in pr …
Conradi-Hunermann-Happle syndrome.
Hartman RD, Molho-Pessach V, Schaffer JV. Hartman RD, et al. Dermatol Online J. 2010 Nov 15;16(11):4. Dermatol Online J. 2010. PMID: 21163155 Free article.
She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities. An elevated plasma 8(9)-cholestenol level confirmed the diagnosis of Conradi-Hunermann-Happle syndrome, wh …
She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, an …
Antibacterial medication use during pregnancy and risk of birth defects: National Birth Defects Prevention Study.
Crider KS, Cleves MA, Reefhuis J, Berry RJ, Hobbs CA, Hu DJ. Crider KS, et al. Arch Pediatr Adolesc Med. 2009 Nov;163(11):978-85. doi: 10.1001/archpediatrics.2009.188. Arch Pediatr Adolesc Med. 2009. PMID: 19884587
Sulfonamides were associated with anencephaly (adjusted OR [AOR] = 3.4; 95% confidence interval [CI], 1.3-8.8), hypoplastic left heart syndrome (AOR = 3.2; 95% CI, 1.3-7.6), coarctation of the aorta (AOR = 2.7; 95% CI, 1.3-5.6), choanal atresia (AOR = 8.0; 95% CI, 2.7-23.5 …
Sulfonamides were associated with anencephaly (adjusted OR [AOR] = 3.4; 95% confidence interval [CI], 1.3-8.8), hypoplastic left heart sy …
Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K. Wimplinger I, et al. Eur J Med Genet. 2007 Nov-Dec;50(6):421-31. doi: 10.1016/j.ejmg.2007.07.004. Epub 2007 Aug 6. Eur J Med Genet. 2007. PMID: 17845869
The microphthalmia with linear skin defects (MLS or MIDAS) syndrome is a rare X-linked dominant inherited disorder with male lethality, associated with segmental aneuploidy of the Xp22.2 region in most of the cases. ...FISH analysis revealed that the mother is a mos …
The microphthalmia with linear skin defects (MLS or MIDAS) syndrome is a rare X-linked dominant inherited disorder with male l …
[Cataract surgery in 79 patients with relative anterior microphthalmus (RAM): a review of anatomy, associated pathology and complications].
Auffarth GU, Völcker HE. Auffarth GU, et al. Klin Monbl Augenheilkd. 2000 Jun;216(6):369-76. doi: 10.1055/s-2000-10583. Klin Monbl Augenheilkd. 2000. PMID: 10919116 German.

Those eyes are characterized by corneal diameters of < 11 mm and total axial length of > 20 mm. PATIENTS AND METHODS: To evaluate and define morphometrical data and risk factors for cataract surgery in patients with relative anterior microphthalmus (RAM) 112 cataract

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Those eyes are characterized by corneal diameters of < 11 mm and total axial length of > 20 mm. PATIENTS AND METHODS: To evalua

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Relative anterior microphthalmos: morphometric analysis and its implications for cataract surgery.
Auffarth GU, Blum M, Faller U, Tetz MR, Völcker HE. Auffarth GU, et al. Ophthalmology. 2000 Aug;107(8):1555-60. doi: 10.1016/s0161-6420(00)00240-2. Ophthalmology. 2000. PMID: 10919907
There was a high incidence of glaucoma (77.4%), cornea guttata (45.2%), and pseudoexfoliation syndrome (16.1%) in the RAM group. Sixty percent of patients had undergone previous glaucoma surgery. ...CONCLUSIONS: Relative anterior microphthalmos can be characterized …
There was a high incidence of glaucoma (77.4%), cornea guttata (45.2%), and pseudoexfoliation syndrome (16.1%) in the RAM group. Sixt …