FRASER SYNDROME: A CASE REPORT
Open Access
- 31 March 2021
- journal article
- research article
- Published by Khyber Medical University in Khyber Medical University Journal
- Vol. 13 (1), 47-8
- https://doi.org/10.35845/kmuj.2021.20689
Abstract
Fraser syndrome (cryptophthalmos syndrome) is a congenital anomaly in which cryptophthalmos is the main feature. Other malformations can include syndactyly, craniofacial and urogenital anomalies. It is a rare autosomal recessive condition with FRAS1, FREM2 and GRIP1 genes mutation. We report a case of 2 months old male child born to consanguineous parents. He presented with unilateral cryptophthalmos and some features that were compatible with diagnostic criteria of Fraser syndrome such as syndactyly, high arched palate with ankyloglossia, cryptorchidism and hypospadias. It can be diagnosed by antenatal ultrasound and clinical examination. We also present the criteria for diagnosing Fraser syndrome, its prenatal findings and ocular management.Keywords
This publication has 2 references indexed in Scilit:
- Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case reportBMC Pregnancy and Childbirth, 2020
- Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature ReviewAllergy & Rhinology, 2018