Results 41 to 50 of about 168,602 (136)

Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases

, 2021
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by hamartomas in multiple organs.
Giacomo M Bacci, Silvio Polizzi, Francesco Mari, Valerio Conti, Roberto Caputo, Renzo Guerrini, Giacomo M. Bacci; Silvio Polizzi; Francesco Mari; Valerio Conti; Roberto Caputo; Renzo Guerrini   +1 more
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Atypical superior iris and chorioretinal coloboma

Indian Journal of Ophthalmology, 2022
Shweta Parakh, Shrutanjoy Das, Shrey Maheshwari, Gaurav Luthra, Saurabh Luthra   +4 more
doaj   +1 more source

Morphological patterns of fetal lateral ventricular border irregularities: descriptive study

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 5, Page 635-645, May 2026.
ABSTRACT Objectives Alterations in the lateral ventricular borders have been documented in the prenatal diagnosis of certain fetal brain conditions. This study aimed to describe and classify the morphological patterns of lateral ventricular border irregularities (LVBI) and to discuss possible etiologies.
E. Hadi, A. Sorotzkin, L. Haddad, E. Kassif, C. Hoffmann, S. Shrot, S. Shoob, A. Shariv, Y. Mizrachi, M. Levy, Z. Leibovitz, T. Lerman‐Sagie, L. Gindes   +12 more
wiley   +1 more source

Coloboma

, 2022
Dr.
Andrew G. Lee, MD
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Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Bisphosphonate-related bilateral atypical femoral fractures : be aware and beware [PDF]

, 2011
Although bisphosphonates have a well established therapeutic role in the prevention of osteoporosis-related fractures, several reports published over the past 5-6 years suggest a possible causative relationship between long-term use of bisphosphonates ...
Depasquale, Ruben, Matthews, Claire, Cassar-Pullicino, Victor N.   +2 more
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Nasopalpebral lipoma coloboma syndrome

, 2011
Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome.
NSuresh Babu, D Raviprakash, Ravi Kumar, N Suresh Babu   +3 more
core   +1 more source

Deceptively Challenging Airway Management in a CHARGE Syndrome Patient Despite Careful Preoperative Anticipation: A Case Report

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Difficult intubation is a critical challenge in anesthesia, often linked to anatomical abnormalities. CHARGE syndrome patients are known for airway difficulties due to craniofacial anomalies, yet some cases may present without obvious anatomical predictors.
Masoud Nashibi, Seyedeh Fatemeh Hamzavi, Sogol Asgari, Semonti Nandi   +3 more
wiley   +1 more source

ABCB6 Mutations Cause Ocular Coloboma [PDF]

, 2012
Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity.
Shi, Yi, Wang, Lejin, Yang, Zhenglin, Li, Wei, Lin, Ying, Phillips, John D., Soltis, Kathleen A., Paw, Barry H., McBride, Paul F., Dubey, Sushil Kumar, Gong, Bo, Dong, Jiamei, Sundaresan, Periasamy, Wang, Lejing, Liu, Xiaqi, Liu, Xiaoqi, Dubey, Sushi Kumar, Zhen, Yuanli, Li, Jing, He, Fei, Jia, Yanlei, Li, Dean Y., Liang, Chen, Cooney, Jeffrey D., Lu, Fang, Namburi, Prasanthi, Du, Wei, Bu, Juan   +27 more
core   +1 more source

Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma

, 2008
We report a rare case of retinal detachment with microphthalmos and choroidal coloboma. A 28-year-old man who had suffered from poor vision since early childhood was examined because of progressive deterioration of vision in his right eye. Examination of
陳慕師;何子昌;張慶忠;蔡紫薰;侯平康, CHEN, MUH-SHY;HO, TZYY-CHANG;CHANG, CHING-CHUNG;TSAI, TZU-HSUN;HOU, PING-KANG   +1 more
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