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.

Scoliosis

The presence of an abnormal lateral curvature of the spine.


合計: 2

                      


(表示件数)
PMID (PMCID)
12029591
FEMALE
[Butterfly vertebrae and scoliosis: Alagille syndrome].
Przkora R, Schmitz A, Perlick L, Koenig R, Jaeger U, Schmitt O.
Z Orthop Ihre Grenzgeb. 2002;140(2):182-4.
When diagnosing a scoliosis with asymmetric butterfly vertebrae, an Alagille syndrome should be considered, especially if the patient shows a liver dysfunction.
12029591
FEMALE
[Butterfly vertebrae and scoliosis: Alagille syndrome].
Przkora R, Schmitz A, Perlick L, Koenig R, Jaeger U, Schmitt O.
Z Orthop Ihre Grenzgeb. 2002;140(2):182-4.
[Butterfly vertebrae and scoliosis: Alagille syndrome].