A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.

Purpose: To determine the underlying genetic cause of Axenfeld-Rieger syndrome (ARS) in a three-generation family.

Introduction: ARS is a multisystem, autosomal dominant disorder characterized by specific ocular and non-ocular anomalies sometimes caused by mutations in the transcription factor gene, PITX2.

Methods: The three coding exons of the PITX2 gene, i.

New blood vessels can be induced to invade ischemic skeletal muscle.

Purpose: Despite intense investigation of angiogenesis, little effort has been made to exploit this phenomenon in ischemic tissue. The few studies on this topic have focused primarily on the development of collateral arteries in existing arterial beds. A previous study showed that a perfused muscle flap transposed to an ischemic limb formed vascular connections, which were demonstrated with angiography, between the arteries of the flap and the limb vasculature.

Tetraploidy in a liveborn infant.

A congenitally malformed infant with a tetraploid chromosome complement who survived to 1 year of age is reported. The relationship of the polyploidy and the anomalies is discussed.