Results 81 to 90 of about 812 (180)

Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings

, 2013
Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations diagnosed at 20 weeks.
Peeters, Hilde, Van Robaeys, J., Witters, Ingrid, Fryns, Jean-Pierre, Mesens, Tinne   +4 more
core  

Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2. [PDF]

BMJ Case Rep, 2023
Mwipopo E, Massomo MM, Moshiro R, Manji KP.   +3 more
europepmc   +1 more source

Clinical manifestations and oral findings in fraser syndrome

, 2007
This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient.
Diniz, Michele Baffi, Lima, Luciana Monti, De Paula, Andréia Bolzan, Santos-Pinto, Lourdes Aparecida Martins dos, Sacono, Nancy Tomoko   +4 more
core   +1 more source

Manitoba Oculo-tricho-anal Syndrome: Complex Surgical Correction of an Extensive Upper Lid Coloboma with Congenital Symblepharon

The Pan-American Journal of Ophthalmology, 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 A Kazaryan, Alejandra A Valenzuela
doaj  

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

, 2005
Fraser syndrome is a recessive, multisystem disorder presenting with cryptophthalmos, syndactyly and renal defects and associated with loss-of-function mutations of the extracellular matrix protein FRAS1.
Hopkins, Jason, Elizabeth Bentley, Jackson, Ian, Taylor, Martin S., Antonio Perez Aytes, Smyth, Ian, Woolf, Adrian S.; id_orcid, Darling, Susan M., Peter J Scambler, Shalini Jadeja, McGregor, Lesley, Georges Chalepakis, Lesley McGregor, Susan M Darling, Ian Jackson, Jason Hopkins, Jolanta E Pitera, Van Haelst, Mieke, Ian Smyth, Chalepakis, Georges, Philip, Nicole, Martin S Taylor, Adrian S Woolf, Pitera, Jolanta E., Aytes, Antonio Perez, Jadeja, Shalini, Bentley, Elizabeth, Fiona M Watt, Watt, Fiona M., Mieke van Haelst, Scambler, Peter J., Nicole Philip   +31 more
core   +1 more source

The pathology of the eyelid at the University Hospital of Brazzaville

, 2017
Background: The eyelids have two essential roles, protecting the eye from external attacks and ensure the drainage of tears through the nasolacrimal passages they shelter.
Noa, G, Epée, E, Tapsoba, Y, Nomo, A, Eballe, A.O., Atipo-Tsiba, P.W., Dohvoma, V.A., Ebana, S, Diomandé, I.A., Nomo, C   +9 more
core   +1 more source

Obstruksi Duktus Nasolakrimalis Kongenial [PDF]

, 1994
"Dakriologi Adalah Ilmu Yang Mempelajari Tentang Sistem Lakrimal Serta Kelainan-Kelainannya.(16) Indonesia Hingga Kini, Nampaknya Dakriolpgi Kurang Menda-Patkan Perhatian, Sedangkan Kelainan Seperti Paca Saluran Air Mata Sering Terjadi.(21) Kelainan ...
Anang Tribowo, -
core  

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies

CDK20, also known as CCRK, is a cyclin-dependent kinase that regulates cell growth, primary cilium structure, and Sonic Hedgehog signaling. CDK20 has not yet been associated with a known human disorder.
Wang, Xueqi, Patel, Tejan S, Lerman-Sagie, Tally, Bontempo, Kelly, Shannon, Patrick, Trejo Martinez, Jonathan, Marshall, Aren E, Eaton, Alison J, Angle, Brad, Mears, Wendy, Lev, Dorit, Lemire, Gabrielle, Blaser, Susan   +12 more
core   +1 more source

Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature

, 2015
Fraser syndrome is a rare genetic disorder characterized by cryptophthalmos, syndactyly and laryngeal atresia. Although laryngeal webs occur uncommonly, they are the main cause of death in the first week of life in these patients.
Izadi, F., Ahmadi, A., Zobairy, H., Bakhti, S., Hirbod, H., Safdarian, M.   +5 more
core  

Fraser Syndrome From Prenatal Diagnosis to Multidisciplinary Management and Long-Term Care: A Narrative Review. [PDF]

Cureus
Rana S.
europepmc   +1 more source