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Quoted phrase not found in phrase index: "Colobomatous macrophthalmia-microcornea syndrome"
Page 1
Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region.
Elcioglu NH, Akin B, Toker E, Elcioglu M, Kaya A, Tuncali T, Wollnik B, Hornby S, Akarsu NA. Elcioglu NH, et al. Am J Med Genet A. 2007 Jun 15;143A(12):1308-12. doi: 10.1002/ajmg.a.31766. Am J Med Genet A. 2007. PMID: 17506091
Colobomatous macrophthalmia with microcornea syndrome (OMIM 602499) is a rare, autosomal dominant malformation characterized by microcornea, uveal coloboma, axial enlargement of the globe, and myopia. ...A maximum pairwise LOD score of 3.61 (Theta = 0) was no …
Colobomatous macrophthalmia with microcornea syndrome (OMIM 602499) is a rare, autosomal dominant malformation characterized b …
Functional Vision Analysis in Patients With CHARGE Syndrome.
Martin GC, Robert MP, Challe G, Trinh NTH, Attié-Bitach T, Brémond-Gignac D, Bodaghi B, Abadie V. Martin GC, et al. J Pediatr Ophthalmol Strabismus. 2020 Mar 1;57(2):120-128. doi: 10.3928/01913913-20200207-02. J Pediatr Ophthalmol Strabismus. 2020. PMID: 32203596 Free article.
The answers from the 36 responders (18 males) allowed for the calculation of three scores that assessed distance vision, near vision, and overall ability scores. ...Severity of the ocular malformation was not associated with the overall ability score (P = .64 …
The answers from the 36 responders (18 males) allowed for the calculation of three scores that assessed distance vision, near vision, …
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
METHODS: A retrospective study conducted between October 2017 and September 2018 in three tertiary eye institutes, part of the Bodhya Eye Consortium with consensus led common pro formas. Children with complete clinical data and without syndromic/systemic involvement were i …
METHODS: A retrospective study conducted between October 2017 and September 2018 in three tertiary eye institutes, part of the Bodhya Eye Co …
Ocular manifestations in Wolf-Hirschhorn syndrome.
Dickmann A, Parrilla R, Salerni A, Savino G, Vasta I, Zollino M, Petroni S, Zampino G. Dickmann A, et al. J AAPOS. 2009 Jun;13(3):264-7. doi: 10.1016/j.jaapos.2009.02.011. J AAPOS. 2009. PMID: 19541266
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) multiple congenital anomalies/mental retardation is caused by partial deletion of the short arm of chromosome 4 and can be considered a contiguous gene syndrome, characterized by typical facial appearance, mental retardat …
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) multiple congenital anomalies/mental retardation is caused by partial deletion of the sh …
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A. Lahrouchi N, et al. Nat Commun. 2019 Mar 12;10(1):1180. doi: 10.1038/s41467-019-08547-w. Nat Commun. 2019. PMID: 30862798 Free PMC article.
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associated with homozy …
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome charac …
Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome.
Brei TJ, Burke MJ, Rubinstein JH. Brei TJ, et al. J Pediatr Ophthalmol Strabismus. 1995 Jul-Aug;32(4):248-52. doi: 10.3928/0191-3913-19950701-12. J Pediatr Ophthalmol Strabismus. 1995. PMID: 7494163 Review.
Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS). The data were collected from the world literature, from communication with colleagues and with families of individuals with RTS, and from personal observation …
Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS). The data were collect …
CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
Beleggia F, Li Y, Fan J, Elcioğlu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, Wollnik B. Beleggia F, et al. Hum Mol Genet. 2015 Apr 15;24(8):2267-73. doi: 10.1093/hmg/ddu744. Epub 2015 Jan 5. Hum Mol Genet. 2015. PMID: 25561690 Free PMC article.
Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with increased axial length, coloboma of the iris and …
Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosom …
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.
Verloes A, Temple IK, Bonnet S, Bottani A. Verloes A, et al. Am J Med Genet. 1997 Apr 14;69(4):370-9. doi: 10.1002/(sici)1096-8628(19970414)69:4<370::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9098485
We propose a new nosology of those cases and delineate several new clinical forms. Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, …
We propose a new nosology of those cases and delineate several new clinical forms. Purported BS2 cases may be divided into: (1) Bardet-Biedl …
CHARGE syndrome: a window of opportunity for audiologic intervention.
Edwards BM, Kileny PR, Van Riper LA. Edwards BM, et al. Pediatrics. 2002 Jul;110(1 Pt 1):119-26. doi: 10.1542/peds.110.1.119. Pediatrics. 2002. PMID: 12093956
RESULTS: All children had 4 or more acronymic features, including colobomatous defects or choanal atresia. Ear anomalies/hearing loss occurred at least as frequently as other primary features. ...Congenital facial palsy seems to be a valid statistical predictor of s …
RESULTS: All children had 4 or more acronymic features, including colobomatous defects or choanal atresia. Ear anomalies/hearing loss …
Retinal detachment associated with optic disc colobomas and morning glory syndrome.
Chang S, Gregory-Roberts E, Chen R. Chang S, et al. Eye (Lond). 2012 Apr;26(4):494-500. doi: 10.1038/eye.2011.354. Epub 2012 Jan 13. Eye (Lond). 2012. PMID: 22241012 Free PMC article.
We report the diagnosis and treatment of patients with retinal detachment and/or retinoschisis associated with optic nerve coloboma or morning glory syndrome. A retrospective review of patients with optic nerve coloboma or morning glory syndrome with associated reti …
We report the diagnosis and treatment of patients with retinal detachment and/or retinoschisis associated with optic nerve coloboma or morni …
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