Sonographic Diagnosis of Antley-Bixler PORD-Type Syndrome

We present a case of PORD with the ABS phenotype diagnosed by sonography in utero at an early gestation (13–16 weeks), which included mutations in the POR gene. Sonographers, sonologists, and perinatologists aware of the diversity of this rare condition will be well prepared to raise the suspicion of Antley-Bixler PORD-type syndrome.

http://jdm.sagepub.com/cgi/content/abstract/31/2/93?rss=1

Source: Journal of Diagnostic Medical Sonography - March 20, 2015 Category: Radiology Authors: Ghazle, H. H., Newcomb, P. M. Tags: Case Studies Source Type: research