Results 61 to 70 of about 1,142,423 (87)

Case Report Waardenburg Syndrome Type I with Iris and Retinal Coloboma

, 2020
We present a rare case report, Waardenberg syndrome type I, and ocular abnormalities related to the disease. A Boy, 11 months, presented with blue and hole in inferior iris.
Prastyani, R. (Reni), Lestari, A. Y. (Atina)   +1 more
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Manifestation and grading of ocular involvement in patients with Tessier number 10 clefts. [PDF]

Eye (Lond), 2017
Shao C, Lu W, Li J, Chen J, Yao Q, Fan X, Fu Y.   +6 more
europepmc   +1 more source

Surgical outcome of 21 patients with congenital upper eyelid coloboma. [PDF]

Int J Ophthalmol, 2010
Lodhi AA, Junejo SA, Khanzada MA, Sahaf IA, Siddique ZK.   +4 more
europepmc   +1 more source

Insights into genetics, human biology and disease gleaned from family based genomic studies. [PDF]

Genet Med, 2019
Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR, Centers for Mendelian Genomics.   +36 more
europepmc   +1 more source

[Lipoma, lipoma-like, atypical lipoma: case report].

, 2004
Lipoma, generally considered as a benign neoplasia, may occur as liposarcoma lipoma-like or atipycal lipoma, especially when of huge dimension. Pathological features of lipoma and liposarcoma lipoma-like are similar: the pattern is characterized by fatty
L. Simonelli, G. Ricci, P. Bartolucci, ASSENZA, Marco, MODINI, Claudio, F. Romagnoli   +5 more
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Noonan Syndrome with Optic Disc Coloboma

Our project focuses on Noonan syndrome and its ocular manifestations, specifically coloboma and optic disc excavation. Noonan syndrome is a genetic disorder with a wide range of clinical presentations, and eye-related abnormalities are among its common ...
Fateme Montazeri; Niloofar Radgoudarzi; Yin A. Liu
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Bilateral Iris Coloboma in an 11-Year-Old Child with Low Vision and High Intraocular Pressure: A Rare Case Report and Review of Literature

Tawfiq Ahmad Mushkani, Zabih Ur Rahman Roheen Ophthalmology Department, Kabul University of Medical Science, Kabul, AfghanistanCorrespondence: Tawfiq Ahmad Mushkani, Email tawfiqarashmushkani@gmail.comBackground: Coloboma means curtailed in Greek ...
Roheen ZUR, Mushkani TA
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El deporte para discpacitados según el proyecto de Special Olympics

, 2009
Lipoma, M, MANGO, PIETRO
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Nasopalpebral lipoma‐coloboma syndrome

Clinical Genetics, 1991
An autosomal dominant dysplasia‐malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia.
AKARSU, AYŞE NURTEN, SAYLI, BS
core   +13 more sources

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Nasopalpebral Lipoma-Coloboma Syndrome

2023
Oscar F. Chacon-Camacho, Tania Barragan-Arevalo, Vianey Ordoñez-Labastida, Andrés Urióstegui-Rojas   +3 more
exaly   +2 more sources