Results 41 to 50 of about 10,294 (182)

Lateral Tarsorrhaphy and Fixation on the Orbital Ligament to Correct Macroblepharon in Dogs: 77 Palpebral Fissures

Veterinary Ophthalmology, Volume 28, Issue 2, Page 448-456, March 2025.
ABSTRACT Purpose To describe a surgical method for correcting lower lid entropion, lateral canthal entropion, and macroblepharon. Methods Lid margins were incised at a 45° angle, and lateral lid margins and a rhomboid shaped piece of skin were resected based on the degree of macroblepharon.
Maximilian Werner‐Tutschku, Barbara Nell   +1 more
wiley   +1 more source

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

Evaluation of Posterior Ocular Structures in Patients with Isolated Iris Coloboma

Beyoglu Eye Journal, 2020
INTRODUCTION[|]To measure lamina cribrosa thickness (LCT), lamina cribrosa depth (LCD) and subfoveal choroidal thickness (SFCT) by imaging posterior ocular structures in pediatric cases with isolated unilateral iris coloboma and to determine the ...
Serkan Akkaya
doaj   +1 more source

Achondroplasia and macular coloboma

Middle East African Journal of Ophthalmology, 2015
Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy.
Ahoor, M. H., Amizadeh, Y., Sorkhabi, R.
openaire   +3 more sources

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

A Case Report of Ocular Coloboma in the CT-Scan

مجله دانشکده پزشکی اصفهان, 2015
Background: This is to report a patient with ocular coloboma presented in optic nerve without microphthalmos and orbital cist.   Case Report: A 13-years-old boy with optic disc coloboma was admitted with the best corrected vision of 20/70 and 20/80 in ...
Gholamali Naderian, Amin Moeini, Valleh Sajjadi, Mohammad Ashkan Naderian   +3 more
doaj  

Genetics of infertility and “assisted fertilization” in the Bible: The case of Abraham and his family

Andrology, Volume 14, Issue 3, Page 641-650, March 2026.
Abstract Couple infertility is a very ancient medical condition. One of the first descriptions of familial infertility/subfertility is contained in the first book of the Bible, Genesis, written in the 10th century BC and reporting tales from the oral tradition even occurred about 800 years earlier.
Manuela Simoni, Frank Tüttelmann, Livio Casarini   +2 more
wiley   +1 more source

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
wiley   +1 more source

Systemic and Ophthalmologic Findings in Patients with Iris Coloboma

Türk Oftalmoloji Dergisi, 2013
Pur po se: Ocular coloboma is a rare malformation resulting from defective closure of the embryonic optic fissure. It can affect iris, retina, choroid, optic disc or ciliary body. This study reviews the clinical diagnosis and the accompanying ocular and
Sevda Ertekin, İdil Göksel, Nurgül Kuş, Ayşe Ayça Sarı   +3 more
doaj   +1 more source

Ocular coloboma combined with cleft lip and palate: a case report

BMC Ophthalmology, 2020
Background Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal,
Yung Ju Yoo, Sang Beom Han, Hee Kyung Yang, Jeong-Min Hwang   +3 more
doaj   +1 more source