Pédiatrie clinique : libre accès
Libre accès

Abstrait

Rib Hypoplasia and Double Aortic Arch in an Infant with Thrombocytopenia Absent Radius Syndrome

Alexandra Iacob*, Kelly Feldman, Maureen Bocian, Cherry Uy

We present a case of a term male diagnosed postnatally with Thrombocytopenia Absent Radius (TAR) syndrome with right-side dominant double aortic arch, absent right fourth rib and extreme hypoplasia of his left fourth and fifth ribs. These anomalies suggest possible new phenotypic features of TAR syndrome. This case expands the phenotype of the TAR syndrome to include vascular ring and absent/hypoplastic ribs. To our knowledge, this is the first case of TAR syndrome with this constellation of findings.