Results 11 to 20 of about 20,731 (178)

Ocular manifestations of Fraser syndrome in children. A clinical case

open access: yesРоссийский офтальмологический журнал, 2021
A clinical case of rare genetic disease, Fraser syndrome, in a 1.5-month-old infant is presented. Fraser syndrome is a congenital pathology characterized by diverse clinical symptoms, which involves a combination of acrofacial and urogenital ...
T. V. Sudovskaya   +3 more
doaj   +2 more sources

Fraser syndrome

open access: yesInternational Journal of Gynecology & Obstetrics, 1995
AbstractIn a consanguineous marriage, a woman at 32 weeks' pregnancy presented with intrauterine growth retardation and bilateral renal agenesis. Fraser syndrome (cryptophthalmus syndactyly syndrome) was diagnosed based on cryptophthalmos, atresia of meatus acusticus externus in auricula, syndactyly, hypoplastic larynx, hypoplastic left lung, agenesis ...
Özgünen T.   +5 more
core   +5 more sources

Fraser Syndrome – A Dilemma To Parents

open access: yesPakistan Journal of Medicine and Dentistry
In this case report the patient belongs to rural Sindh, with poor prenatal care. She came with her third pregnancy to Ziauddin Hospital referred from interior of Sindh, with the history of previous two premature deliveries due to oligohydramnios ...
Shazia Sultana   +4 more
doaj   +4 more sources

A rare reason for difficult intubation on neonates: Fraser syndrome

open access: yesÇukurova Üniversitesi Tıp Fakültesi Dergisi, 2016
Fraser Syndrome is a rare genetic disease with autosomal recessive inheritance, characterized with cryptophtalmos, cutaneous syndactyly, laryngeal and genital anomalies. To provide for additional preparation during the opening of the airway, knowing that
Selvi Gulasi
doaj   +2 more sources

Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2022
Objective: To demonstrate the picture of a woman who had three times of pregnancies but fetuses were complicated with Fraser syndrome, a rare genetic disorder with multiple congenital anomalies.
Tsung-Ying Ou   +4 more
doaj   +2 more sources

Fraser Syndrome: A Rare Case Report

open access: yesJournal of Karnali Academy of Health Sciences, 2022
Fraser syndrome is a rare, autosomal recessive condition. It is characterized by cryptophthalmos, syndactyly, craniofacial dysmorphism, laryngeal and genitourinary malformations, and musculoskeletal anomalies. We report a case of a neonate who presented
Sandeep Shrestha   +3 more
doaj   +1 more source

Anesthetic management in a case of Fraser syndrome

open access: yesSaudi Journal of Anaesthesia, 2013
Virender Kumar Mohan, Aanchal Sharma
doaj   +4 more sources

Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene [PDF]

open access: yesFrontiers in Medicine
BackgroundFraser syndrome (FS) is an autosomal recessive inherited malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tracts. Variants in the FRAS1-related extracellular matrix 2 (FREM2)
Weidong Wei   +11 more
doaj   +2 more sources

A Rarely Seen Fetal Anomaly: Fraser Syndrome

open access: yesGynecology Obstetrics & Reproductive Medicine, 2009
There are about 200 published case reports of patients with Fraser syndrome and several comprehensive reviews have previously been published. Fraser syndrome has a recurrence risk of 25% among siblings, therefore prenatal diagnosis is an important task ...
Miğraci Tosun   +5 more
doaj   +1 more source

Vaginal atresia in a case of fraser syndrome. [PDF]

open access: yesJ Obstet Gynaecol India, 2014
Vaginal atresia is a congenital anomaly of the female genitourinary tract and may occur as an isolated developmental defect or as part of a complex of anomalies like Mayer Rokitansky Kuster Hauser (MRKH) syndrome, Bardet-Biedl syndrome, Kaufman-McKusick syndrome, Fraser syndrome and Winter syndrome.
Rathod S   +3 more
europepmc   +4 more sources

Home - About - Disclaimer - Privacy