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Bilateral iridoretinal colobomas in a child with a Noonan phenotype - PubMed

pubmed.ncbi.nlm.nih.gov › ...
Bilateral iridoretinal colobomas in a child with a Noonan phenotype. Clin Dysmorphol. 2001 Oct;10(4):299-300. doi: 10.1097/00019605-200110000-00014. Authors.

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Bilateral iridoretinal colobomas in a child with a Noonan phenotype - Lippincott

journals.lww.com › fulltext › bilateral_iri...
Bilateral iridoretinal colobomas in a child with a Noonan phenotype. Dollfus, Hélène a,b; Cantenot, Luce c; Rouault, Francis d; Philipp, Nicole e; Flament ...

Bilateral iridoretinal colobomas in a child with a Noonan phenotype - Lippincott

journals.lww.com › downloadpdf
May 29, 2001 · Bilateral iridoretinal colobomas in a child with a. Noonan phenotype. HeÂleÁne Dollfusa,b, Luce Cantenotc, Francis Rouaultd, Nicole Philippe ...

Congenital absence of the nose and nasal fossae - PubMed

pubmed.ncbi.nlm.nih.gov › ...
- Microphthalmia in the right eye with iridoretinal coloboma and right cryptorchidism were also noted. When the child was 9 months old a right orbital ...

Knowledge on rare diseases and orphan drugs - Orphanet: Clinical signs and symptoms

www.orpha.net › disease › sign
Iridoretinal coloboma HP:0007744; Low-set, posteriorly rotated ears HP:0000368; Microcephaly HP:0000252; Multicystic kidney dysplasia HP:0000003; Optic atrophy ...

Article Genetic analysis of CHARGE syndrome identifies overlapping molecular biology - ScienceDirect.com

www.sciencedirect.com › article › pii
Proband 521 was a male recruited into our CHARGE cohort at 22 years of age with a clinical history of global developmental delay, iridoretinal colobomas ...

Entry - #615583 - VERHEIJ SYNDROME; VRJS - OMIM

omim.org › entry
... iridoretinal coloboma (1/5), bilateral optic nerve hypoplasia (2/5), renal anomalies (2/5), and branchial arch defects (2/5). Low et al. (2017) reported 12 ...

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

www.gimjournal.org › article › fulltext
... iridoretinal colobomas, mild hearing loss, small stature, genital abnormalities, and a ventricular septal defect corrected surgically. Surgical history was ...

[PDF] Surgical Management in Advanced Stages of Retinopathy of Prematurity; Our Experience

applications.emro.who.int › imemrf
include iridoretinal and retinal-retinal adhe- sions; (7) subretinal hemorrhage or exudation and retinal pigment epithelium degeneration may preclude ...

Mild Noonan phenotype associated with coloboma of the iris and choroid - ResearchGate

www.researchgate.net › publication › 11...
Bilateral iridoretinal colobomas in a child with a Noonan phenotype. November 2001 · Clinical Dysmorphology. H??l??ne Dollfus · Luce Cantenot · Francis Rouault ...

Entry - *604819 - POLY-U-BINDING SPLICING FACTOR, 60-KD; PUF60 - OMIM

omim.org › entry
The patient had typical facial findings of Verheij syndrome and eye anomalies, including iridoretinal coloboma, bilateral microphthalmia, and optic nerve ...

Bilateral congenital microphthalmia with visual acuity - DALPASSO Protesi Oculari

www.dalpasso.it › gallery-e-filmati › bila...
Diagnosis: Bilateral congenital microphthalmos with visual acuity, clear and centered microcornea. Right eye: Several iridoretinal adhesions.

[PDF] Iris coloboma, ptosis, hypertelorism, and mental retardation ...

www.semanticscholar.org › paper › Iris-c...
Bilateral iridoretinal colobomas in a child with a Noonan phenotype. H. DollfusL. CantenotF. RouaultN. PhilippJ. Flament. Medicine. Clinical dysmorphology.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature - Institutional Repository University of Antwerp

repository.uantwerpen.be › link › irua
Nov 7, 2016 · ... iridoretinal coloboma (1/6), bilateral optic nerve hypoplasia (2/6), renal anomalies (2/6) and branchial arch defects (2/6). These results ...

Chromosomal Abnormalities and Congenital Heart Disease - Circulation

circ.ahajournals.org › 886.full.pdf
8). Case 216. The patient, a 16-year-old boy had. Circulation, Volume XXXVI, December 1967 tetralogy of Fallot, mental retardation, iridoretinal coloboma ...

Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life - Taylor & Francis Online

www.tandfonline.com › doi › pdf
Sep 26, 2021 · M, iridoretinal-coloboma RELE. B. OFCD. 13. ♂ 8y. 42 w, induction VD. M LE. U. ORA. 14. ♂ 1y. 39 w, 3700 g, NI. A RE. U. ORA. 15. ♂ 5y. 39 w, ...

[PDF] Noonan Syndrome Guideline Development Group - The RASopathies Network

rasopathiesnet.org › 2014/01 › 265...
"Bilateral iridoretinal colobomas in a child with a Noonan phenotype." Clin Dysmorphol 10(4): 299-300. • Elgohary, M. A., P. Bradshaw, et al. (2005) ...

Noonan's Syndrome with Keratoconus and Optic Disc Coloboma - F.J. Ascaso, M.A. Del Buey, V. Huerva, B. Latre, A. Palomar, 1993

journals.sagepub.com › doi
Bilateral iridoretinal colobomas in a child with a Noonan phenotype. Go to citation Crossref Google Scholar. Figures and tables. Figures & Media Tables. Figures ...

Clinical evidence for a single entity encompassing Melnick‐Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia - Verloes - 2000

onlinelibrary.wiley.com › doi
Feb 28, 2000 · Iridoretinal coloboma. Stratton and Bluestone [1991] Patient 1. Cerebellar hypoplasia. Stratton and Bluestone [1991] Patient 1. Myelomeningocele ...

Iris coloboma, ptosis, hypertelorism, and mental retardation ...

www.researchgate.net › publication › 14...
Bilateral iridoretinal colobomas in a child with a Noonan phenotype. Article. Nov 2001; CLIN DYSMORPHOL. H??l??ne Dollfus · Luce Cantenot · Francis Rouault · J ...

Paraaortic lymphadenectomy is not necessary in the treatment of localized paratesticular rhabdomyosarcoma - American Cancer Society Journals

acsjournals.onlinelibrary.wiley.com › pdf
Oct 1, 1984 · in one, scoliosis in one, and facial dysmorphy, iridoretinal coloboma, persistent ductus arteriosus and left renal agenesis in one case. The ...

A Rare and Genetic Disease Search System : PubCaseFinder

pubcasefinder.dbcls.jp › page:1 › size:10
obsolete Iridoretinal coloboma, Occasional (29-5%). HP:0008678, Renal hypoplasia/aplasia, Occasional (29-5%). HP:0009829, Phocomelia, Occasional (29-5%). HP: ...

[PDF] A severe case of Frank-ter Haar syndrome and literature review - ScienceDirect.com

www.sciencedirect.com › article › pii
iridoretinal coloboma. (g). Myelinated nerve fiber layer (g). ERG: reduced cortico- retinal conduction. Page 15. Table 1 (continued). 15. Authors. Iqbal et al ...

Supplementary appendix - The Lancet

www.thelancet.com › attachment › mmc1
Apr 28, 2023 · Iridoretinal coloboma. 6. Page 8. Patient. ID. Signs and Symptoms. HPO # HPO Term. Diagno sis. Gene Rank P-value iris and fundus coloboma. HP: ...

IRIDOLOGISTS ASSOCIATION CANADA [1 record] - TERMIUM Plus®

www.btb.termiumplus.gc.ca › alpha-eng
... IRIDORETINAL LIGHT · IRIDOSMINA · IRIDOSMINE · IRIDOSMIO · IRIDOSMIUM · IRIDOSORNIS ANALIS · IRIDOSORNIS JELSKII · IRIDOSORNIS PORPHYROCEPHALA · IRIDOSORNIS ...

Id Name Definition Comment Filter - TADeus2

tadeus2.mimuw.edu.pl › ontologies › HPO
obsolete Iridoretinal coloboma, —, —, —. HPO, HP:0005837, obsolete Joint dislocations in young adult, —, —, —. HPO, HP:0005833, obsolete Joint swelling onset ...

Peters-Plus Syndrome (PTRPLS) - MalaCards

www.malacards.org › card › peters_plus...
iridoretinal coloboma 58, Occasional (29-5%). 99, seizure 30, HP:0001250. 100, agenesis of corpus callosum 30, HP:0001274. 101, scoliosis 30, HP:0002650. 102 ...

Human Phenotype Ontology

knowledge.brc.riken.jp › bioresource › o...
obsolete Iridoretinal coloboma5; obsolete Iron accumulation in globus pallidus6; obsolete Joint contractures involving the joints of the feet11; obsolete Joint ...

iriditron 520 radiographic exposure device - TERMIUM Plus®

www.btb.termiumplus.gc.ca › alpha-eng
IRIDORETINAL LIGHT · IRIDOSMINE · IRIDOSMIUM · IRIDOTOMY · IRIDOVIRUS · IRIFIP · IRIG · IRIGA · IRIM · IRIMO. × Close: Alphabetical list of terms (escape key) ...

Iris coloboma, ptosis, hypertelorism, and mental - Journal of Medical Genetics

jmg-stage-next.bmj.com › 425.full.pdf
Sep 18, 1992 · teral iridoretinal coloboma extending to the optic nerve on one side, hydroureters related to horseshoekidney, and perceptive deafness. (-60 ...

TADeus2

tadeus2.mimuw.edu.pl › ontologies › HPO
obsolete Iridoretinal coloboma, —, —, —. HPO, HP:0007747, Monocular horizontal nystagmus, —, —, HP:0000666. HPO, HP:0007748, obsolete Irido-fundal coloboma, — ...

ARHGAP35 Gene - Rho GTPase Activating Protein 35 - GeneCards

www.genecards.org › cgi-bin › carddisp
... iridoretinal coloboma,; long face,; long philtrum,; low-set, posteriorly rotated ears,; microcephaly,; microcornea,; micrognathia,; micromelia,; microtia, ...

A Rare and Genetic Disease Search System : PubCaseFinder

pubcasefinder.dbcls.jp › page:1 › size:10
obsolete Iridoretinal coloboma, Occasional (29-5%). HP:0008678, Renal hypoplasia/aplasia, Occasional (29-5%). HP:0008905, Rhizomelia, Occasional (29-5%). HP: ...

Volume 6, Chapter 58. Vitreous Surgery in Proliferative Vitreoretinopathy

www.oculist.net › ebook › duanes › pages
... iridoretinal adhesions. If the sclera is too macerated in the region of previous sclerotomies, a radial sclerotomy may be performed. Metal cannulas that ...

US20170061070A1 - Method and process for whole genome sequencing for genetic disease diagnosis - Google Patents

patents.google.com › patent
Iridoretinal coloboma. iris and fundus coloboma, HP:0007748, Irido-fundal coloboma. magna cisterna magna, HP:0002280, Enlarged cisterna. magna. cerebellar ...

[PDF] EXPERIMENTAL AND CLINICAL OBSERVATIONS ON MASSIVE SUPRACHOROIDAL HEMORRHAGE* - Europe PMC

europepmc.org › taos00008-0562
fluid exchalnge, the iridoretinal and interretinal adhesions could not be released. At this stage of surgery the patient suffered a cardiac arrest and died ...

BMP4 Gene - Bone Morphogenetic Protein 4 - GeneCards

www.genecards.org › cgi-bin › carddisp
Apr 2, 2024 · ... iridoretinal coloboma,; long face,; long philtrum,; low-set, posteriorly rotated ears,; microcephaly,; microcornea,; micrognathia,; micromelia ...

Uveal coloboma: clinical and basic science update - OUCI

ouci.dntb.gov.ua › works
Dollfus, Bilateral iridoretinal colobomas in a child with a Noonan phenotype, Clin Dysmorphol, № 10, с. 299 https://doi.org/10.1097/00019605-200110000-00014 ...

upheno/mappings/hp-to-zp-bestmatches.tsv at master - GitHub

github.com › upheno › blob › hp-to-zp-...
... Iridoretinal coloboma ZP:0010596 abnormal(ly) morphology iris 0.5416666667 0.9285714286 HP:0007799 Conjunctival whitish salt-like deposits ZP:0000356 ...

[XLS] Inheritance - Elsevier

media.journals.elsevier.com › files
... Iridoretinal coloboma, HP:0007744. 5248, 7747, Monocular horizontal nystagmus, HP:0007747. 5249, 7748, Irido-fundal coloboma, HP:0007748. 5250, 7750, Hypoplasia ...

CNVxplorer - A web tool for the clinical interpretation of CNVs

cnvxplorer.com
... Iridoretinal coloboma - HP:0007744Monocular horizontal nystagmus - HP:0007747obsolete Irido-fundal coloboma - HP:0007748Hypoplasia of the fovea - HP ...

PREDICT

sysbio.gachon.ac.kr › predict
... Iridoretinal coloboma(7744). Monocular horizontal nystagmus(7747). Irido-fundal coloboma(7748). Hypoplasia of the fovea(7750). Macular dystrophy(7754). Juvenile ...

WO2015123600A1 - Method and process for whole genome sequencing for genetic disease diagnosis - Google Patents

patents.google.com › patent
retinal coloboma HP:0007744 Iridoretinal coloboma. iris and fundus coloboma HP:0007748 Irido-fundal coloboma. HP:0002280 Enlarged cisterna. magna cisterna ...

Verheij Syndrome - FindZebra

www.findzebra.com › details
... iridoretinal coloboma (1/5), bilateral optic nerve hypoplasia (2/5), renal anomalies (2/5), and branchial arch defects (2/5). Low et al. (2017) reported 12 ...

Syndromes of the Head and Neck | Semantic Scholar

www.semanticscholar.org › paper › Synd...
Mar 1, 1993 · Bilateral iridoretinal colobomas in a child with a Noonan phenotype. H. DollfusL. CantenotF. RouaultN. PhilippJ. Flament. Medicine. Clinical ...

dd-genomics/archived/v0/dicts/hpoterm_abnormalities_mentions.tsv at master - GitHub

github.com › dd-genomics › blob › hpot...
... Iridoretinal coloboma iridoretin|coloboma HP:0007747 Monocular horizontal nystagmus horizont|nystagmus|monocular HP:0007748 Irido-fundal coloboma irido-fund ...

HP - FuncPred

www.funcpred.com › browse_functions
Iridoretinal coloboma. HP:0001089, Iris atrophy. HP:0000612, Iris coloboma. HP:0011523, Iris cyst. HP:0012635, Iris hypoperfusion. HP:0007730, Iris ...

[PDF] Abnormality of the middle phalanx of the 4th toe Abnormality of the middle phalanx of the 2nd toe Curved 4th toe phalanx Curved - Index of /

molgenis26.gcc.rug.nl › hpo_FD_ecc
Iridoretinal coloboma. Irido-fundal coloboma. Unossified sacrum. Infantile sensorineural hearing impairment. Dysplastic sacrum Increased axial globe ...

(PDF) Surgical Management in Advanced Stages of Retinopathy of ...

www.academia.edu › Surgical_Managem...
In future, enzyme assisted include iridoretinal and retinal-retinal adhe- vitrectomy may become a basic component of sions; (7) subretinal hemorrhage or ...

Steinfeld Syndrome - DoveMed

www.dovemed.com › diseases-conditions
"iridoretinal" from www.dovemed.com
May 2, 2018 · Iridoretinal coloboma; Median cleft lip; Missing ribs; Omphalocele; Overriding aorta; Phocomelia; Renal hypoplasia/aplasia; Tetralogy of Fallot.

https://raw.githubusercontent.com/linkml/linkml/ma...

raw.githubusercontent.com › tests › data
... Iridoretinal coloboma"^^xsd:string ; oboInOwl:consider "HP:0000612" ; oboInOwl:id "HP:0007744"^^xsd:string ; owl:deprecated true . obo:HP_0007747 a owl ...

Smith's Recognizable Patterns of Human Malformation: Expert ...

books.google.com › books
... iridoretinal colobomas, prominent corneal nerves on slit lamp exam, nerve deafness, hypoplastic nipples, low-set nipples, kyphosis, winging of scapula ...

Noonan Syndrome: Characteristics and Interventions

books.google.com › books
... iridoretinal colobomas in a child with a Noonan phenotype." Clin Dysmorphol 10(4): 299-300. • Elgohary, M. A., P. Bradshaw, et al. (2005). "Anterior uveitis ...

The Ophthalmic Yearbook

books.google.com › books
... iridoretinal stratum . In aniridia most disorders are of ectodermal origin , but this case , in which the ectodermal layer was well formed , proved that the ...

Proliferative Vitreoretinopathy (PVR): (PVR)

books.google.com › books
... iridoretinal adhesion . Contraction of membrane causes inversion of pupillary margin . FIGURE 8. Surgery of anterior membrane : When anterior membrane.

PhenoSim

120.77.47.2
obsolete Iridoretinal coloboma, Focal impaired awareness cognitive seizure with deja vu/jamais vu, Periodic hyperkalemic paralysis, Long eyelashes in irregular ...

Pedoman Tatalaksana Sindroma Noonan-2 - Scribd

id.scribd.com › document › PEDOMAN-...
Clin Dysmorphol 12(2): 143-4. 224. Dollfus, H., L. Cantenot, et al. (2001). Bilateral iridoretinal colobomas in a child with a. Noonan phenotype. Clin ...
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