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Quoted phrase not found in phrase index: "Microphthalmia, syndromic 12"
Page 1
National population-based estimates for major birth defects, 2010-2014.
Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle-Colarusso T, Cho SJ, Aggarwal D, Kirby RS; National Birth Defects Prevention Network. Mai CT, et al. Birth Defects Res. 2019 Nov 1;111(18):1420-1435. doi: 10.1002/bdr2.1589. Epub 2019 Oct 3. Birth Defects Res. 2019. PMID: 31580536 Free PMC article.
RESULTS: The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied re …
RESULTS: The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for c …
Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium. Tibrewal S, et al. Br J Ophthalmol. 2021 Jul;105(7):897-903. doi: 10.1136/bjophthalmol-2020-316910. Epub 2020 Aug 22. Br J Ophthalmol. 2021. PMID: 32829301
Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into isolated ocular coloboma (CB), coloboma with microcornea (CBMC), colobomatous microphthalmos (CBMO), non-colobomatous microphtha …
Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided int …
Demographics and histopathological characteristics of enucleated microphthalmic globes.
Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY. Alkatan HM, et al. Sci Rep. 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. Sci Rep. 2022. PMID: 35347187 Free PMC article.
Microphthalmia is a rare ocular anomaly with a poorly understood etiology that is most likely related to heritable and/or environmental factors. ...Globes were classified into 2 groups: severe microphthalmos (axial length or mean diameter less than 10 mm in infancy …
Microphthalmia is a rare ocular anomaly with a poorly understood etiology that is most likely related to heritable and/or environment …
Duplication 9q34 syndrome.
Allderdice PW, Eales B, Onyett H, Sprague W, Henderson K, Lefeuvre PA, Pal G. Allderdice PW, et al. Am J Hum Genet. 1983 Sep;35(5):1005-19. Am J Hum Genet. 1983. PMID: 6613995 Free PMC article.
Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, m …
Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens …
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
Indrieri A, Franco B. Indrieri A, et al. Genes (Basel). 2021 Feb 11;12(2):263. doi: 10.3390/genes12020263. Genes (Basel). 2021. PMID: 33670341 Free PMC article. Review.
A peculiar feature of this condition is its inheritance pattern: X-linked dominant male-lethal. Only female or XX male individuals can be observed, implying that nullisomy for these genes is incompatible with normal embryonic development in mammals. ...Moreover, LSDMCA sho …
A peculiar feature of this condition is its inheritance pattern: X-linked dominant male-lethal. Only female or XX male individuals can be …
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 …
Surgical and prosthetic treatment for microphthalmia syndromes.
Wavreille O, François Fiquet C, Abdelwahab O, Laumonier E, Wolber A, Guerreschi P, Pellerin P. Wavreille O, et al. Br J Oral Maxillofac Surg. 2013 Mar;51(2):e17-21. doi: 10.1016/j.bjoms.2012.02.018. Epub 2012 Mar 30. Br J Oral Maxillofac Surg. 2013. PMID: 22464758
Our aim was to evaluate the long-term outcomes of prosthetic treatment and orbital expansion in the management of microphthalmia syndromes. We did a retrospective single-centre study of all cases of microphthalmia treated between 1989 and 2010. The patients w …
Our aim was to evaluate the long-term outcomes of prosthetic treatment and orbital expansion in the management of microphthalmia s …
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S. Lin S, et al. BMC Med Genet. 2018 Sep 10;19(1):160. doi: 10.1186/s12881-018-0678-6. BMC Med Genet. 2018. PMID: 30200890 Free PMC article.
Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate extensive genetic and allelic heterogeneity. ...Biallelic ALDH1A3 gene variants are the leading genetic causes of autosomal recessive anophthalmia and microphthalmia in co …
Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate extensive genetic and allelic heteroge …
Maternal SARS-CoV-2 infection during pregnancy: possible impact on the infant.
Morhart P, Mardin C, Rauh M, Jüngert J, Hammersen J, Kehl S, Schuh W, Maier-Wohlfart S, Hermes K, Neubert A, Schneider M, Hein A, Woelfle J, Schneider H. Morhart P, et al. Eur J Pediatr. 2022 Jan;181(1):413-418. doi: 10.1007/s00431-021-04221-w. Epub 2021 Aug 5. Eur J Pediatr. 2022. PMID: 34355278 Free PMC article.
The risk and potential consequences of mother-to-child transmission of severe acute respiratory syndrome-coronavirus type 2 (SARS-CoV-2) during pregnancy are still a matter of debate. ...Two PCR-confirmed perinatal SARS-CoV-2 transmissions with mild symptoms in affected ne …
The risk and potential consequences of mother-to-child transmission of severe acute respiratory syndrome-coronavirus type 2 (SARS-CoV …
Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark.
Roos L, Jensen H, Grønskov K, Holst R, Tümer Z. Roos L, et al. Ophthalmic Epidemiol. 2016 Oct;23(5):324-30. doi: 10.1080/09286586.2016.1213859. Epub 2016 Aug 23. Ophthalmic Epidemiol. 2016. PMID: 27552085
PURPOSE: This study aims to quantify the occurrence of the congenital eye malformations anophthalmia (AO), microphthalmia (MO) and coloboma among liveborn infants in Denmark, and to estimate the rate of chromosomal abnormalities in this group of patients. ...The rate of …
PURPOSE: This study aims to quantify the occurrence of the congenital eye malformations anophthalmia (AO), microphthalmia (MO) and co …
35 results