Results 21 to 30 of about 812 (180)

Fraser Syndrome: A Rare Case Report

Journal 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, Kamal Prasad Thani, Munna Keshari, Annie Shrestha   +3 more
doaj   +1 more source

Clinical applications of the amniotic membrane in pediatric ocular pathology: a scoping review [PDF]

BMC Ophthalmology
Introduction The amniotic membrane (AM), which is derived from the placenta and is composed of columnar epithelium, a basement membrane, and an avascular stroma, is commonly preserved through cryopreservation.
Laura Valentina Botia Suárez, Laura Vanesa Henao Ramírez, José Enrique Graterol Porras, María Paola Lubo López, Lev Bladimir Ramirez Martinez, Maria Alejandra Charria Mejia, Luis Gustavo Celis Regalado   +6 more
doaj   +2 more sources

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

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   +2 more sources

Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report [PDF]

BMC Pregnancy and Childbirth, 2020
Background Fraser syndrome or “cryptophthalmos syndrome” is a rare autosomal recessive disease. It is characterized by a group of congenital malformations such as: crytophthalmos, syndactyly, abnormal genitalia, and malformations of the nose, ears, and ...
Muhamad Zakaria Brimo Alsaman, Sarab Agha, Hala Sallah, Rayan Badawi, Mohammad Nour Kitaz, Abdullah Assani, Hamdi Nawfal   +6 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

Visual impairment and blindness among the students of blind schools in Allahabad and its vicinity: A causal assessment

Indian Journal of Ophthalmology, 2015
Background/Aims: Information on eye diseases in blind school children in Allahabad is rare and sketchy. A cross-sectional study was performed to identify causes of blindness (BL) in blind school children with an aim to gather information on ocular ...
Sushank Ashok Bhalerao, Mahesh Tandon, Satyaprakash Singh, Shraddha Dwivedi, Santosh Kumar, Jagriti Rana   +5 more
doaj   +2 more sources

Fraser Syndrome – A Dilemma To Parents [PDF]

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   +2 more sources

Congenital Bilateral Cryptophthalmos with Orbito-Palpebral Cyst and Microphthalmos [PDF]

, 2023
Microphthalmia is regarded as the most common congenital malformation of the eye, second only to congenital cataract. Its association with an intraorbital cyst, however, is exceedingly rare.
Yarmohamadi, Afsaneh, Dehghani, Mohammad Sadegh, Dehghanpour Farashah, Shima Alsadat   +2 more
core   +1 more source

Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings

Birth Defects Research, Volume 113, Issue 14, Page 1057-1073, August 15, 2021., 2021
Abstract Background Surveillance programs in low‐ and middle‐income countries (LMICs) have difficulty in obtaining accurate information about congenital anomalies. Methods As part of the ZikaPLAN project, an International Committee developed an app for the description and coding of congenital anomalies that are externally visible at birth, for use in ...
Helen Dolk, Aminkeng Zawuo Leke, Phil Whitfield, Rebecca Moore, Katy Karnell, Ingeborg Barišić, Linda Barlow‐Mosha, Lorenzo D. Botto, Ester Garne, Pilar Guatibonza, Shana Godfred‐Cato, Christine M. Halleux, Lewis B. Holmes, Cynthia A. Moore, Ieda Orioli, Neena Raina, Diana Valencia   +16 more
wiley   +1 more source