Results 21 to 30 of about 20,731 (178)

Anaesthetic considerations in a patient with Fraser syndrome [PDF]

Anaesthesia, 1995
Summary A 16‐year‐old girl with Fraser syndrome underwent abdominal hysterectomy under general anaesthesia. She had multiple congenital anomalies which included a cardiac defect and airway abnormalities. Intubation difficulties were circumvented by the retrograde technique of placement of the tracheal tube.
S R, Jagtap, A D, Malde, S H, Pantvaidya
exaly   +3 more sources

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   +2 more sources

Fraser syndrome

Muller Journal of Medical Sciences and Research, 2014
Divya Krishnan, K Shreedhara Avabratha, Amitha D′Souza   +2 more
doaj   +3 more sources

Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. [PDF]

PLoS Genetics, 2010
Using forward genetics, we have identified the genes mutated in two classes of zebrafish fin mutants. The mutants of the first class are characterized by defects in embryonic fin morphogenesis, which are due to mutations in a Laminin subunit or an ...
Thomas J Carney, Natália Martins Feitosa, Carmen Sonntag, Krasimir Slanchev, Johannes Kluger, Daiji Kiyozumi, Jan M Gebauer, Jared Coffin Talbot, Charles B Kimmel, Kiyotoshi Sekiguchi, Raimund Wagener, Heinz Schwarz, Phillip W Ingham, Matthias Hammerschmidt   +13 more
doaj   +2 more sources

Cryptophthalmos and Bilateral Renal Agenesis with Cleft Lip and Palate: Fraser Syndrome: Case Report

Gynecology Obstetrics & Reproductive Medicine, 2012
Fraser syndrome is a rare autosomal recessive disorder consisting of multiple anomalies including variable expression of cryptophthalmos, syndactyly, abnormal genitalia, malformations of the nose, ear and larynx, renal agenesis, oro-facial clefts ...
Emre Pabuçcu, Korhan Kahraman, Esra Özkavukçu, Yasemin Karabulut, Acar Koç   +4 more
doaj   +1 more source

Fraser Syndrome: A Report of Two Cases [PDF]

Haseki Tıp Bülteni, 2015
Fraser syndrome (cryptophthalmos syndactyly syndrome) is a rare autosomal recessive disorder. The main features are cryptophthalmos (hidden eye), ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital ...
Nihal Kılınç, Süreyya Demir, Bülent Demir   +2 more
doaj   +2 more sources

Recurrent abdominal pain as a leading symptom for branchio-oto-renal syndrome: a case report [PDF]

Journal of Medical Case Reports
Background Branchio-oto-renal syndrome is a rare autosomal dominant disorder characterized by hearing impairment, branchial arch anomalies, preauricular pits, and renal malformations.
Alaa Senjab, Omar Al Ayoubi, Grace Tannous, Yaman Alsharef   +3 more
doaj   +2 more sources

Fraser Syndrome.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2016
Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects.
Adnan Aslam, Saleem, Sorath Noorani, Siddiqui   +1 more
  +6 more sources

FRASER SYNDROME: A CASE REPORT

Khyber Medical University Journal, 2021
Fraser syndrome (cryptophthalmos syndrome) is a congenital anomaly in which cryptophthalmos is the main feature. Other malformations can include syndactyly, craniofacial and urogenital anomalies.
Madiha Waseem, Hira Waseem, Muhammad Naveed Khani   +2 more
doaj   +1 more source

Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome. [PDF]

J Am Soc Nephrol, 2012
Deficiency of the extracellular matrix molecule FRAS1, normally expressed by the ureteric bud, leads to bilateral renal agenesis in humans with Fraser syndrome and blebbed (Fras1bl/bl) mice.
Pitera JE, Woolf AS, Basson MA, Scambler PJ.   +3 more
europepmc   +2 more sources