Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Rectourethral fistula

An abnormal connection (fistula) between the rectum and the urethra.


合計: 1

                       


（表示件数）
PMID (PMCID)
1887851
 MALE Infant
Alagille syndrome associated with caudal dysplasia sequence.
Rodriguez JI, Rivera T, Palacios J.
Am J Med Genet. 1991;40(1):61-4.
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.