Vertebral anomalies in children with Alagille syndrome: An analysis of 50 consecutive patients

Pediatric Radiology

Volumn 32, Issue 2, 2002, Pages 114-119

  Sanderson, Evelyn ^a   Newman, Vanessa ^a   Haigh, Susan F ^a   Baker, Alastair ^a   Sidhu, Paul S ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Alagille syndrome; Biliary; Congenital; Spine

Indexed keywords

ADOLESCENT; ADULT; ALAGILLE SYNDROME; ARTICLE; CHILD; CHOLESTASIS; CHRONIC DISEASE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; FEMALE; FREQUENCY ANALYSIS; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RADIODIAGNOSIS; RETROSPECTIVE STUDY; SPINE FUSION; SPINE RADIOGRAPHY; VERTEBRA MALFORMATION;

ADOLESCENT; ALAGILLE SYNDROME; CHILD; CHILD, PRESCHOOL; CHOLESTASIS; CHRONIC DISEASE; FEMALE; HUMANS; INFANT; MALE; RETROSPECTIVE STUDIES; SPINE;

EID: 0036938244     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00247-001-0599-x     Document Type: Article

References (22)

1. Watson GH, Miller V (1973) Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver diseases. Arch Dis Child 48:459-466
2. Alagille D, Odievre M, Gautier M, et al (1975) Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 86:63-71
3. Reily CA, Cotlier E, Jensen PS, et al (1979) Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. Ann Intern Med 91:520-527
4. Danks DM, Campbell PE, Rogers JJ, et al (1977) Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 52:360-367
5. Emerick KM, Rand EB, Goldmuntz E, et al (1999) Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 29:822-829
6. Alagille D, Estrada A, Hadchouel M, et al (1987) Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 110:195-200
7. Oda T, Elkahloun AG, Pike BL, et al (1997) Mutations in the human Jagged1 gene are responsible for Alagille Syndrome. Nature Genet 16: 235-242
8. Li L, Krantz ID, Deng Y, et al (1997) Alagille Syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch 1. Nature Genet 16:243-251
9. MacMillan JC, Shepherd R, Heritage M (1998) Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome). Baillieres Clin Gastroenterol 12:275-291
10. Rosenfield NS, Kelley MJ, Jensen PS, et al (1980) Arteriohepatic dysplasia: radiologic features of a new syndrome. AJR 135:1217-1223
11. Berrocal T, Gamo E, Navalon J, et al (1997) Syndrome of Alagille: radiological and sonographic findings. Eur J Radiol 7:115-118
12. Brunelle F, Estrada A, Dommergues JP, et al (1986) Skeletal anomalies in Alagille's syndrome. Ann Radiol 29:687-690
13. Dahms BB, Petrelli M, Wyllie R, et al (1982) Arteriohepatic dysplasia in infancy and childhood: a longitudinal study of six patients. Hepatology 2:350-358
14. Krantz ID, Rand EB, Genin A, et al (1997) Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. Am J Med Genet 70:80-86
15. Delgado A, Mokri B, Miller GM (1996) Butterfly vertebra. J Neuroimaging 6:56-58
16. Colquhoun J (1968) Butterfly vertebrae or sagittal cleft vertebrae. Am J Orthop Surg 10:44-50
17. Crosnier C, Attie-Bitach T, Encha-Razavi F, et al (2000) JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. Hepatology 32:574-581
18. Louis AA, Van Eyken P, Haber BA, et al (1999) Hepatic Jagged 1 expression studies. Hepatology 30:1269-1275
19. Larsen WJ (1997) The fourth week. In: Larsen WJ (ed) Human embryology, 2nd edn. Churchill Livingstone, London, pp 75-76
20. Markowitz J, Daum F, Kahn EI, et al (1983) Arteriohepatic dysplasia. I. Pitfalls in diagnosis and management. Hepatology 3:74 76
21. Hoffenberg EJ, Narkewicz MR, Sondheimer JM, et al (1995) Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 127:220-224
22. Quiros-Tejeira RE, Ament ME, Heyman MB, et al (1999) Variable morbidity in Alagille syndrome: a review of 43 cases. J Pediatr Gastroenterol Nutr 29:431-437