Biomaterial Database

Alagille syndrome associated with caudal dysplasia sequence. 1991

J I Rodríguez, and T Rivera, and J Palacios

Department of Pathology, La Paz Hospital, Madrid, Spain.

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.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007668	Kidney	Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.	Kidneys
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D008297	Male		Males
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D013902	Radiography, Thoracic	X-ray visualization of the chest and organs of the thoracic cavity. It is not restricted to visualization of the lungs.	Thoracic Radiography,Radiographies, Thoracic,Thoracic Radiographies