Abstract

Fraser Syndrome: A Case Report of a Very Rare Syndrome

Fraser syndrome is a rare autosomal recessive multiple malformation syndrome. It is characterized by cryptophthalmos, cutaneus syndactyly, malformation of the larynx and genitourinary tract, craniofacial dysmorphisms, mental retardation, and musculoskeletal abnormalities. The diagnosis of this syndrome can be made on the basis of physical examination and occasionally with prenatal ultrasound imaging. Various mutations of FRAS1, FREM2 and GRIP1 genes are known to play a role in the etiology of the disorder. In this article we want to introduce a case of a female newborn, who presented with cryptophthalmos, syndactyly of both feet and hands, ambiguous genitalia, anal fistule, umbilical hernia, unilateral renal agenesis, and craniofacial dysmorphism. In this case report, we aimed to present and discuss our patient’s clinical findings, genetic basis of Fraser syndrome and follow-up cases from the literature.


Author(s):

Olena Erkun, Tetyana Syrotenko, Ibrahim Caner,Oner Ozdemir, Mine Urfali, Tugba Akin Duman and Yasemin Anil Eyupoglu Tanriverdi



Abstract | Full-Text | PDF

Share this  Facebook  Twitter  LinkedIn  Google+
30+ Million Readerbase
Recommended Conferences
Google scholar citation report
Citations : 158

Journal of Rare Disorders: Diagnosis & Therapy received 158 citations as per google scholar report

Journal of Rare Disorders: Diagnosis & Therapy peer review process verified at publons
Abstracted/Indexed in
  • Google Scholar
  • China National Knowledge Infrastructure (CNKI)
  • Directory of Research Journal Indexing (DRJI)
  • Publons
  • Secret Search Engine Labs
  • Euro Pub

View More »

Flyer image

paper.io

agar io

wowcappadocia.com
cappadocia-hotels.com
caruscappadocia.com
brothersballoon.com
balloon-rides.net

wormax io