Prenatal Sonographic Detection of Skeletal Dysplasias: A Case of Multiple Pterygium Syndrome, or Escobar Syndrome

Skeletal dysplasias are a genetically heterogeneous group of disorders that can be diagnosed prenatally by sonography. Differentiating these disorders in the prenatal period can be difficult. However, differentiating known lethal disorders from nonlethal disorders can improve patient care and plan of action. This case study presents multiple pterygia, flexion contractures, and skeletal abnormalities, which are consistent with multiple pterygium syndrome, or Escobar syndrome.

Source: Journal of Diagnostic Medical Sonography - July 21, 2014 Category: Radiology Authors: Bildner, A. Tags: Case Studies Source Type: research