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.

Butterfly vertebrae

In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra.


Total: 4

                       


(per page)
PMID (PMCID)
29187043
 MALE Infant, Newborn
An Atypical Presentation of Alagille Syndrome.
Wu KY, Treece AL, Russo PA, Wen JW.
Pediatr Dev Pathol. 2018;21(1):79-83.
This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.
29187043
 MALE Infant, Newborn
An Atypical Presentation of Alagille Syndrome.
Wu KY, Treece AL, Russo PA, Wen JW.
Pediatr Dev Pathol. 2018;21(1):79-83.
This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.
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.
9775042
 FEMALE Infant
[Evolution of post-fracture bone deformities in an infant with hepatic osteodystrophy on Alagille syndrome].
de Halleux J, Rombouts JJ, Otte JB.
Rev Chir Orthop Reparatrice Appar Mot. 1998;84(4):381-6.
Andrea St. is born in 1984 with multiple malformations corresponding to Alagille Syndrome: ductulus paucity, pulmonary arterial hypoplasia, posterior embryotoxin and "butterfly vertebrae".