This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Saliani, P. Articles by Cohen, D. Search for Related Content Social Bookmarking                         What's this?

The Role of Ultrasound in the Diagnosis of Fryns Syndrome

Mid Rockland Imaging, 18 Squadron Blvd., New City, NY 10956 mmpatti{at}aol.com

Sylvia Epstein, BA, RDMS

Daniel Cohen, MD

Fryns syndrome is an autosomal recessive genetic disorder characterized by craniofacial, thoracic, limb, genitourinary, gastrointestinal, and central nervous system abnormalities. This case demonstrates the role of sonography in detecting this entity in a fetus that demonstrated normal maternal serum screening and amniocentesis. In this case, there was no family history of this defect, the parents were not consanguineous, and an autopsy was unavailable.

Key Words: Fryns syndrome • autosomal recessive disorder • diaphragmatic hernia • craniofacial abnormalities

Journal of Diagnostic Medical Sonography, Vol. 20, No. 1, 42-45 (2004)
DOI: 10.1177/8756479303261409


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?