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Butterfly vertebral arch

MedGen UID:
349323
Concept ID:
C1861627
Finding
HPO: HP:0004617

Definition

Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. [from HPO]

Term Hierarchy

Conditions with this feature

Alagille syndrome due to a JAG1 point mutation
MedGen UID:
365434
Concept ID:
C1956125
Disease or Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.

Recent clinical studies

Etiology

Clark L, Bradley EJ, Mackechnie-Guire R, Taylor A, Ling J
J Equine Vet Sci 2022 Dec;119:104163. Epub 2022 Nov 4 doi: 10.1016/j.jevs.2022.104163. PMID: 36343830
Aboughalia H, Noda S, Chapman T, Revzin MV, Deutsch GH, Browd SR, Katz DS, Moshiri M
Radiographics 2021 Nov-Dec;41(7):2176-2192. doi: 10.1148/rg.2021210066. PMID: 34723699
Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S
Spine (Phila Pa 1976) 2006 Apr 1;31(7):E192-7. doi: 10.1097/01.brs.0000208166.61618.8f. PMID: 16582839
Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare M, Joshi A
Indian J Pediatr 2002 Sep;69(9):825-7. doi: 10.1007/BF02723701. PMID: 12420920
Hadchouel M
Indian J Pediatr 2002 Sep;69(9):815-8. doi: 10.1007/BF02723697. PMID: 12420916

Diagnosis

Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare M, Joshi A
Indian J Pediatr 2002 Sep;69(9):825-7. doi: 10.1007/BF02723701. PMID: 12420920
Hadchouel M
Indian J Pediatr 2002 Sep;69(9):815-8. doi: 10.1007/BF02723697. PMID: 12420916
Alagille D
Clin Invest Med 1996 Oct;19(5):325-30. PMID: 8889270
Resnick D, Niwayama G
Radiology 1978 Jan;126(1):57-65. doi: 10.1148/126.1.57. PMID: 339268

Therapy

Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Arai N, Sasaki H, Tamura R, Ohara K, Yoshida K
World Neurosurg 2017 Nov;107:1047.e9-1047.e15. Epub 2017 Aug 10 doi: 10.1016/j.wneu.2017.08.017. PMID: 28804045

Prognosis

Aboughalia H, Noda S, Chapman T, Revzin MV, Deutsch GH, Browd SR, Katz DS, Moshiri M
Radiographics 2021 Nov-Dec;41(7):2176-2192. doi: 10.1148/rg.2021210066. PMID: 34723699
Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare M, Joshi A
Indian J Pediatr 2002 Sep;69(9):825-7. doi: 10.1007/BF02723701. PMID: 12420920
Hadchouel M
Indian J Pediatr 2002 Sep;69(9):815-8. doi: 10.1007/BF02723697. PMID: 12420916
McMaster MJ, Singh H
J Bone Joint Surg Am 1999 Oct;81(10):1367-83. doi: 10.2106/00004623-199910000-00002. PMID: 10535587

Clinical prediction guides

Arai N, Sasaki H, Tamura R, Ohara K, Yoshida K
World Neurosurg 2017 Nov;107:1047.e9-1047.e15. Epub 2017 Aug 10 doi: 10.1016/j.wneu.2017.08.017. PMID: 28804045
Öhrström LM, Seiler R, Böni T, Aali A, Stöllner T, Rühli FJ
Skeletal Radiol 2015 Jun;44(6):811-21. Epub 2015 Feb 7 doi: 10.1007/s00256-015-2103-y. PMID: 25662179
McMaster MJ, Singh H
J Bone Joint Surg Am 1999 Oct;81(10):1367-83. doi: 10.2106/00004623-199910000-00002. PMID: 10535587
Alagille D
Clin Invest Med 1996 Oct;19(5):325-30. PMID: 8889270
Alagille D, Estrada A, Hadchouel M, Gautier M, Odièvre M, Dommergues JP
J Pediatr 1987 Feb;110(2):195-200. doi: 10.1016/s0022-3476(87)80153-1. PMID: 3806290

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