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1978 1
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1999 2
2001 1
2002 2
2004 2
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2007 1
2008 2
2009 1
2010 3
2011 2
2012 3
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61 results

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Page 1
Harboyan Syndrome.
Javaid A, Orakzai AA. Javaid A, et al. J Ayub Med Coll Abbottabad. 2020 Oct-Dec;32(Suppl 1)(4):S701-S703. J Ayub Med Coll Abbottabad. 2020. PMID: 33754535 Free article.
Physical examination and laboratory investigations ruled out other causes (eg: Congenital cataracts, Peters anomaly, Sclerocornea) and the diagnosis of Harboyan syndrome was established....
Physical examination and laboratory investigations ruled out other causes (eg: Congenital cataracts, Peters anomaly, Sclerocornea) an …
Chromosome abnormalities and the genetics of congenital corneal opacification.
Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK. Mataftsi A, et al. Mol Vis. 2011;17:1624-40. Epub 2011 Jun 17. Mol Vis. 2011. PMID: 21738392 Free PMC article. Review.
Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridoc …
Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters an …
Melnick-Needles syndrome.
Perry LD, Edwards WC, Bramson RT. Perry LD, et al. J Pediatr Ophthalmol Strabismus. 1978 Jul-Aug;15(4):226-30. doi: 10.3928/0191-3913-19780701-09. J Pediatr Ophthalmol Strabismus. 1978. PMID: 105122
In addition to the usual characteristic clinical findings, sclerocornea and cornea plana were also present in this patient. This is the first case of Melnick-Needles syndrome reported in the ophthalmological literature and the first case reported with ophthalmological find …
In addition to the usual characteristic clinical findings, sclerocornea and cornea plana were also present in this patient. This is t …
Sclerocornea: A rare ocular condition.
Gouider D, Choura R, Mekni M, Sayadi J, Malek I, Nacef L. Gouider D, et al. J Fr Ophtalmol. 2021 Sep;44(7):1089-1091. doi: 10.1016/j.jfo.2021.05.001. Epub 2021 Jun 18. J Fr Ophtalmol. 2021. PMID: 34148700 No abstract available.
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Quiroz-Casian N, Chacon-Camacho OF, Barragan-Arevalo T, Nava-Valdez J, Lieberman E, Salgado-Medina A, Navas A, Graue-Hernandez EO, Zenteno JC. Quiroz-Casian N, et al. Cornea. 2018 Sep;37(9):1178-1181. doi: 10.1097/ICO.0000000000001655. Cornea. 2018. PMID: 29878917 Review.
PURPOSE: To describe 2 sporadic Mexican patients having congenital bilateral, total sclerocornea, aphakia, and microphthalmia associated with novel mutations in the FOXE3 gene. METHODS: Two affected individuals with congenital bilateral, total sclerocornea, aphakia, …
PURPOSE: To describe 2 sporadic Mexican patients having congenital bilateral, total sclerocornea, aphakia, and microphthalmia associa …
Ocular manifestations of genetic and developmental diseases.
Diamond G. Diamond G. Curr Opin Ophthalmol. 1994 Dec;5(6):72-8. doi: 10.1097/00055735-199412000-00012. Curr Opin Ophthalmol. 1994. PMID: 10150831 Review.
Finally, another case of the newly described association of microphthalmia, dermal aplasia, and sclerocornea (MIDAS syndrome) is reported....
Finally, another case of the newly described association of microphthalmia, dermal aplasia, and sclerocornea (MIDAS syndrome) is repo …
8q21.11 microdeletion in two patients with syndromic peters anomaly.
Happ H, Schilter KF, Weh E, Reis LM, Semina EV. Happ H, et al. Am J Med Genet A. 2016 Sep;170(9):2471-5. doi: 10.1002/ajmg.a.37840. Epub 2016 Jul 5. Am J Med Genet A. 2016. PMID: 27378168 Free PMC article. Review.
Microdeletions of 8q21.11 were recently reported in 10 patients with highly variable phenotypes involving craniofacial features, ptosis, intellectual disability, abnormalities of the hands/feet and other defects; sclerocornea and/or microphthalmia were reported in three ca …
Microdeletions of 8q21.11 were recently reported in 10 patients with highly variable phenotypes involving craniofacial features, ptosis, int …
Primary aphakia: clinical recognition is the key to diagnosis.
Kaushik S, Snehi S, Kaur S, Kaur A, Choudhary S, Thattaruthody F, Pandav SS. Kaushik S, et al. J AAPOS. 2022 Dec;26(6):298.e1-298.e5. doi: 10.1016/j.jaapos.2022.07.012. Epub 2022 Sep 29. J AAPOS. 2022. PMID: 36183996
METHODS: Clinical photographs and ultrasound biomicroscopy (UBM) images of children presenting with sclerocornea and undetermined anterior segment dysgenesis between July 2017 and December 2020 were reviewed retrospectively. ...Twelve children were identified with congenit …
METHODS: Clinical photographs and ultrasound biomicroscopy (UBM) images of children presenting with sclerocornea and undetermined ant …
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ. Binenbaum G, et al. Am J Med Genet A. 2008 Apr 1;146A(7):904-9. doi: 10.1002/ajmg.a.32156. Am J Med Genet A. 2008. PMID: 18324686 Free PMC article.
We present seven 22q11.2 patients from multiple centers with sclerocornea, an eye finding previously unreported in the literature. ...The novel finding of sclerocornea suggests that a genetic locus at 22q11.2 may be involved in anterior segment embryogenesis. ...
We present seven 22q11.2 patients from multiple centers with sclerocornea, an eye finding previously unreported in the literature. .. …
A new approach to the classification of neonatal corneal opacities.
Nischal KK. Nischal KK. Curr Opin Ophthalmol. 2012 Sep;23(5):344-54. doi: 10.1097/ICU.0b013e328356893d. Curr Opin Ophthalmol. 2012. PMID: 22871880 Review.
RECENT FINDINGS: Recent literature has demonstrated that certain terms such as 'sclerocornea' are unhelpful when alluding to total NCO. The term Peters anomaly has also become a 'waste paper basket' diagnosis for anterior segment developmental anomalies. ...
RECENT FINDINGS: Recent literature has demonstrated that certain terms such as 'sclerocornea' are unhelpful when alluding to total NC …
61 results