| Literature DB >> 18568997 |
Bishoy S Eskander1, Bahig M Shehata.
Abstract
Fraser syndrome is an autosomal recessive disorder characterized by cryptophthalmos and cutaneous syndactyly. We present a case of Fraser syndrome with bilateral cryptophthalmos and other common features of Fraser syndrome including syndactyly (hands and feet bilaterally), ambiguous genitalia with clitoromegaly, vaginal atresia, and unilateral renal agenesis. We also present the major and minor diagnostic criteria for Fraser syndrome and the frequency of associated malformations.Entities:
Mesh:
Year: 2008 PMID: 18568997 DOI: 10.1080/15513810802077628
Source DB: PubMed Journal: Fetal Pediatr Pathol ISSN: 1551-3815 Impact factor: 0.958