Results 41 to 50 of about 812 (180)

Cryptophthalmos: surgical treatment of the congenital symblepharon variant. [PDF]

British Journal of Ophthalmology, 1986
A case of the congenital symblepharon variant of cryptophthalmos is reported. Surgical treatment is described. The ophthalmic features of cryptophthalmos and its systemic associations are reviewed.
D J, Brazier, S J, Hardman-Lea, J R, Collin   +2 more
openaire   +2 more sources

Tracheal Agenesis: A Challenging Prenatal Diagnosis—Contribution of Fetal MRI

Case Reports in Obstetrics and Gynecology, Volume 2015, Issue 1, 2015., 2015
Tracheal agenesis is a rare congenital anomaly. The prevalence is less than 1 : 50 000 with a male to female ratio of 2 : 1. This anomaly may be isolated but, in 93% of cases, it is part of polymalformative syndrome. The most evocative diagnosis situation is the ultrasonographic congenital high airway obstruction syndrome.
Charline Bertholdt, Estelle Perdriolle-Galet, Pascale Bach-Segura, Olivier Morel, Erich Cosmi   +4 more
wiley   +1 more source

Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome: Report of Two Cases and Brief Review of the Literature

Case Reports in Obstetrics and Gynecology, Volume 2013, Issue 1, 2013., 2013
Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options.
Burcu Artunc Ulkumen, Halil Gursoy Pala, Nalan Nese, Serdar Tarhan, Yesim Baytur, V. Dvornyk, L. Nilas, O. Picone, E. Shalev   +8 more
wiley   +1 more source

Bilateral cryptophthalmos (ablepharon)

Indian Journal of Ophthalmology, 1966
Ishwarchandra, Mulak J
doaj   +1 more source

Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?

International Journal of Nephrology, Volume 2012, Issue 1, 2012., 2012
Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3–6 per 1000 live births, account for the most cases of pediatric end‐stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life.
Ihor V. Yosypiv, Paul Goodyer
wiley   +1 more source

Cryptophthalmos in Fraser Syndrome: a case report

, 2019
Cryptophthalmos is considered a rare anomaly. Cryptophthalmos describes eyes or an eye covered by continuous sheets of skin which can be complete, incomplete or abortive (congenital symblepharon).
Zimudzi, K, Mangombe, S, Masanganise, R
core   +1 more source

Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation

, 2021
FREM2 is a member of the FREM2–FRAS1–FREM1 protein complex which contributes to epithelial–mesenchymal coupling. We report a Thai woman with cryptophthalmos, dental anomalies, and oral vestibule defect.
Kantaputra, Piranit Nik, Intachai, Worrachet, Wangtiraumnuay, Nutsuchar, Ngamphiw, Chumpol, Tongsima, Sissades, Tucker, Abigail S.; id_orcid, Olsen, Bjorn, Chumpol Ngamphiw, Sissades Tongsima, Abigail S. Tucker, Piranit Nik Kantaputra, Bjorn Olsen, Worrachet Intachai, Nutsuchar Wangtiraumnuay   +13 more
core   +1 more source

Successful surgical management of bilateral incomplete cryptophthalmos: A stitch in time

Journal of Clinical Ophthalmology and Research
We report the clinical features and management of a 22-day-old male infant with bilateral incomplete cryptophthalmos, born of consanguineous marriage. Examination revealed upper lid colobomas, symblepharon with superior cornea, and obliterated fornices ...
Purvasha Narang, Milind N Naik, Muralidhar Ramappa   +2 more
doaj   +1 more source

A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: With this case report, we would like to highlight the importance of a multidisciplinary approach and atypical findings of congenital high airway obstruction sequence (CHAOS), anhydramnios, and renal dysgenesis in the prenatal diagnosis of ...
Jyothsna Madan, Mitesh Shetty, B.S. Ramamurthy, Surekha Managoli   +3 more
doaj   +1 more source

Congenital Malformations of the Eye: A Pictorial Review and Clinico‐Radiological Correlations

Journal of Ophthalmology, Volume 2024, Issue 1, 2024.
Congenital malformations of the eye represent a wide and heterogeneous spectrum of abnormalities that may be part of a complex syndrome or be isolated. Ocular malformation severity depends on the timing of the causative event during eye formation, ranging from the complete absence of the eye if injury occurs during the first weeks of gestation, to ...
Alessia Guarnera, Paola Valente, Luca Pasquini, Giulia Moltoni, Francesco Randisi, Chiara Carducci, Alessia Carboni, Giulia Lucignani, Antonio Napolitano, Antonino Romanzo, Daniela Longo, Carlo Gandolfo, Maria Camilla Rossi-Espagnet, Arturo Carta   +13 more
wiley   +1 more source