Results 51 to 60 of about 748 (171)

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

Fraser syndrome without cryptophthalmos: Two cases [PDF]

, 2020
Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies.
Manouvrier-Hanu, S, Lyonnet, S, Vogel, M J, Vincent-Delorme, C, Vanlerberghe, C, Mezel, A, Van Der Zwaag, B, Smol, T, Boussion, S   +8 more
core  

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

Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families

Egyptian Journal of Medical Human Genetics, 2016
Background and aim: Fraser syndrome (FS) is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal malformations and urogenital defects.
Ebtesam M. Abdalla, Louay H. Zayed, Noha M. Issa, Asmaa K. Amin   +3 more
doaj   +1 more source

Novel surgical technique for the management of partial cryptophthalmos

Indian Journal of Ophthalmology, 2014
We report a case of a 2-month-old baby with bilateral nonsyndromic partial cryptophthalmos presenting with upper eyelid incomplete development and fusion to the cornea with resultant inability to close the eyes. He was managed successfully with bilateral
Ramesh Murthy, Himika Gupta
doaj   +1 more source

Cryptophthalmos

Newborn
Citation: 'cryptophthalmos' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10577 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Girish Arora, Parishi Mehta, Kanav Gupta
openaire   +2 more sources

A case of schizencephaly presenting with unilateral cryptophthalmos. [PDF]

, 2008
We describe an unusual case of schizencephaly associated with unilateral orbital meningoencephalocele, anophthalmos, orbital soft mass, cryptophthalmos and partial agenesis of corpus callosum, along with ectopic kidney and thumb anomaly.Oztoprak, I.email:
Erdogan H., Gürelik M., Oztoprak I., Oztoprak B., Toker M.I.   +4 more
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Cryptophthalmos: associated syndromes and genetic disorders

Ophthalmic Genetics, 2023
Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome.
Daphna Landau-Prat, Diana H. Kim, Sana Bautista, Alanna Strong, Karen E. Revere, William R. Katowitz, James A. Katowitz   +6 more
openaire   +2 more sources

The hidden eye: A case of cryptophthalmos

Philippine Journal of Ophthalmology, 2004
Objective: To report a case of cryptophthalmos. Methods: This is a report of a case of cryptophthalmos seen at the University of the Philippines-Philippine General Hospital (UP-PGH).
Raquel M. Joaquin-Quino, MD, Leonardo Mangubat, MD, Ruben Lim Bon Siong, MD   +2 more
doaj  

MANITOBA OCULO-TRCHO-ANAL SYNDROME: COMPLEX SURGICAL CORRECTION OF AN EXTENSIVE UPPER LID COLOBOMA WITH CONGENITAL SYMBLEPHARON

Vision Pan-America, 2017
Manitoba Oculo-tricho-anal Syndrome (MOTA) is a rare autosomal recessive disorder characterized by eyelid coloboma, cryptophthalmos, anophthalmia or microphthalmia, abnormal hair growth from scalp to eyebrow, bifid or broad nasal tip, and ...
Suzie Kazaryan, Alejandra Valenzuela
doaj   +1 more source