A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1

Madan, Jyothsna; Shetty, Mitesh; Ramamurthy, BS; Managoli, Surekha

doi:10.1016/j.tjog.2021.11.020

Cited by 4 publications

(1 citation statement)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… 10 Fraser syndrome 1 is caused by a mutation in the FRAS1 gene located on chromosome 4q21. 11 Fraser syndrome 2 is caused by a mutation in the FREM2 gene (present on chromosome 12q14), and Fraser syndrome 3 is caused by a mutation in the GRIP1 gene (present on chromosome 12q14). 12 , 13 Most of the reported cases are in neonates and young children, and one rare case of Fraser syndrome in an adolescent has been recently reported.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Complete Cryptophthalmos and Suspected Fraser’s Syndrome in a Female Neonate

Ramadugu,

Kuppili,

Suvvari

et al. 2023

Clin Med Insights Case Rep

View full text Add to dashboard Cite

Cryptophthalmos is a rare congenital eye anomaly characterized by the absence of the palpebral fissure. Cryptophthalmos is often associated with Fraser’s syndrome. We present a case of 3 days old female Asian neonate with complete unilateral cryptophthalmos, with the absence of a right eyelid. On inspection, there is an absence of eyelid, eyebrow and eyelashes in the right eye, collectively known as adnexal structures. The left eye was apparently normal. As per the parent’s decision, surgical intervention was not pursued due to the poor visual prognosis. We advised prenatal genetic screening and testing for future pregnancies. These findings suggest the importance of genetic counseling and testing in cases of cryptophthalmos to identify potential genetic mutations and facilitate appropriate management.

show abstract