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.
Rodríguez
J I
JI
Department of Pathology, La Paz Hospital, Madrid, Spain.
Rivera
T
T
Palacios
J
J
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D008099:Liver / Q000002:abnormalities / Q000473:pathology; D008297:Male; D013902:Radiography, Thoracic; D013577:Syndrome