Results 21 to 30 of about 1,431,497 (181)

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

Frontiers 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, Weidong Wei, Yinan Fan, Jiaqi Song, Yedan Lou, Tao Zhang, Tao Zhang, Hua Yuan, Hua Yuan, Jieyuan Jin, Sinan Zhang, Xin Jin   +11 more
doaj   +2 more sources

A rare reason for difficult intubation on neonates: Fraser syndrome

Çukurova 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

A Rarely Seen Fetal Anomaly: Fraser Syndrome

Gynecology 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, Özlem Ulusoy, Arif Kökcü, Mehmet Çetinkaya, Oğuz Aydın, Gönül Oğur   +5 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

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

Taiwanese 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, Meng-Che Tsai, Pao-Lin Kuo, Ni-Chung Lee, Yen-Yin Chou   +4 more
doaj   +1 more source

Fraser Syndrome – A Dilemma To Parents

Pakistan 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, Rubina Hussain, Natasha Lateef, Aijaz Ali, Leena Hani   +4 more
doaj   +1 more source

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management

Indian Journal of Ophthalmology, 2022
Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous.
Deepsekhar Das, Sujeeth Modaboyina, Sahil Agrawal, Neelam Pushker, Rachna Meel, Mandeep S Bajaj   +5 more
doaj   +1 more source

Síndrome de fraser

Brazilian Journal of Health Review, 2022
Introdução: a Síndrome de Fraser é caracterizada por presença de criptoftalmo, sindactilia, anormalidades da genitália e outras malformações congênitas do nariz, ouvido ou laringe, defeitos esqueléticos, hérnia umbilical, agenesia renal e retardo mental. É uma expressão fenotípica que depende da consanguinidade dos pais.
Santos, Victória Bouez, Garcia, Joedna Virgínia Borges, Jordão, Júlia Cristina Miguel, Capelli, Larissa Borges, Alves, Taryane Barros, Santos, Suzane Coimbra, Ferreira, Stéffany, Ataides, Vitória Costa, Polo, Andre Luiz, de Paula, Anna Karollinna Pimenta, Santiago, Anthony Magalhães Morais, Peres, Caio Henrique Rezio, Rezende, Camilla da Rocha, Camargo, Jorge Humberto, Guimarães Filho, Mauro César Gobira, de Sousa, Nádia Germano, Shinyashiki, Marina Bava, Maia, Marina Aparecida, Paulino, Otávio Lotti, Brandão, Lara Mendes, Albuquerque, Laura Dianne Feitosa, Martins, Lorena Milhomem, Farinazzo, Lêda Maria Hamed   +22 more
openaire   +2 more sources

Fraser syndrome without cryptophthalmos: A rare case report

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2015
Fraser syndrome is a rare autosomal recessive multisystem disorder characterized by features such as cryptophthalmos, syndactyly, congenital malformations, and abnormal genitalia.
Jimmy Kishan Sangtani, Ranjit Haridas Kamble, Sunita Shrivastav, Narendra Sharma   +3 more
doaj   +1 more source

bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1. [PDF]

PLoS ONE, 2013
Fras1 is an extracellular matrix associated protein with essential roles in adhesion of epithelia and mesenchyme during early embryonic development. The adhesive function of Fras1 is achieved through interaction with a group of related proteins, Frem 1-3,
Kerry A Miller, Christopher T Gordon, Megan F Welfare, Georgina Caruana, John F Bertram, John F Bateman, Peter G Farlie   +6 more
doaj   +1 more source