Alagille syndrome associated with caudal dysplasia sequence.

A 36 day-old male with typical features of Alagille syndrome presented at birth additional features consistent with the diagnosis of caudal dysplasia sequence: imperforate anus, rectourethral fistula, lumbosacral abnormalities, and dysplastic right kidney. The association of these 2 conditions has not been previously reported, and could indicate the existence of an axial mesodermal dysplasia, of variable extension, in the Alagille syndrome.