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Abnormal pelvis bone ossification

MedGen UID:
867167
•Concept ID:
C4021525
•
Anatomical Abnormality
Synonyms: Abnormal maturation of the pelvis bone; Abnormal ossification involving the bones of the pelvis
 
HPO: HP:0009106

Definition

An abnormality of the formation and mineralization of any bone of the bony pelvis. [from HPO]

Recent clinical studies

Etiology

Pseudo-Protrusio Acetabular Deformity in Osteogenesis Imperfecta Patients.
Song MH, Kamisan N, Lim C, Shin CH, Yoo WJ, Song HR, Choi IH, Cho TJ
J Pediatr Orthop 2021 Mar 1;41(3):e285-e290. doi: 10.1097/BPO.0000000000001739. PMID: 33534367
Distal tibiofibular synostosis after surgically resolved ankle fractures: An epidemiological, clinical and morphological evaluation of a patient sample.
Marvan J, Dzupa V, Krbec M, Skala-Rosenbaum J, Bartoska R, Kachlik D, Baca V
Injury 2016 Nov;47(11):2570-2574. Epub 2016 Sep 7 doi: 10.1016/j.injury.2016.09.007. PMID: 27645618
Acetabular fractures: the role of total hip replacement.
Sierra RJ, Mabry TM, Sems SA, Berry DJ
Bone Joint J 2013 Nov;95-B(11 Suppl A):11-6. doi: 10.1302/0301-620X.95B11.32897. PMID: 24187344
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
Kitoh H, Lachman RS, Brodie SG, Mekikian PB, Rimoin DL, Wilcox WR
Pediatr Radiol 1998 Oct;28(10):759-63. doi: 10.1007/s002470050461. PMID: 9799297
Common fetal aberrations and their teratologic significance: a review.
Khera KS
Fundam Appl Toxicol 1981 Jan-Feb;1(1):13-8. doi: 10.1093/toxsci/1.1.13. PMID: 6135638

Diagnosis

Pseudo-Protrusio Acetabular Deformity in Osteogenesis Imperfecta Patients.
Song MH, Kamisan N, Lim C, Shin CH, Yoo WJ, Song HR, Choi IH, Cho TJ
J Pediatr Orthop 2021 Mar 1;41(3):e285-e290. doi: 10.1097/BPO.0000000000001739. PMID: 33534367
Seronegative spondylarthropathies: imaging of spondylitis, enthesitis and dactylitis.
Barozzi L, Olivieri I, De Matteis M, Padula A, Pavlica P
Eur J Radiol 1998 May;27 Suppl 1:S12-7. doi: 10.1016/s0720-048x(98)00037-0. PMID: 9652496
Bone island (enostosis): current concept--a review.
Greenspan A
Skeletal Radiol 1995 Feb;24(2):111-5. doi: 10.1007/BF00198072. PMID: 7747175
Common fetal aberrations and their teratologic significance: a review.
Khera KS
Fundam Appl Toxicol 1981 Jan-Feb;1(1):13-8. doi: 10.1093/toxsci/1.1.13. PMID: 6135638
4p- (Wolf-Hirschhorn) syndrome.
Magill HL, Shackelford GD, McAlister WH, Graviss ER
AJR Am J Roentgenol 1980 Aug;135(2):283-8. doi: 10.2214/ajr.135.2.283. PMID: 6773328

Therapy

Distal tibiofibular synostosis after surgically resolved ankle fractures: An epidemiological, clinical and morphological evaluation of a patient sample.
Marvan J, Dzupa V, Krbec M, Skala-Rosenbaum J, Bartoska R, Kachlik D, Baca V
Injury 2016 Nov;47(11):2570-2574. Epub 2016 Sep 7 doi: 10.1016/j.injury.2016.09.007. PMID: 27645618
Reversible sclerotic changes of lumbar spine and femur due to long-term oral isotretinoin therapy.
Atalay A, Altaykan A, Ergin G, Kutsal YG
Rheumatol Int 2004 Sep;24(5):297-300. Epub 2003 Sep 10 doi: 10.1007/s00296-003-0391-3. PMID: 13680140
Fluconazole-induced congenital anomalies in three infants.
Pursley TJ, Blomquist IK, Abraham J, Andersen HF, Bartley JA
Clin Infect Dis 1996 Feb;22(2):336-40. doi: 10.1093/clinids/22.2.336. PMID: 8838193
Prophylaxis with indomethacin for heterotopic ossification after Chiari osteotomy of the pelvis.
Randelli G, Romanò CL
J Bone Joint Surg Am 1992 Oct;74(9):1344-6. PMID: 1429789

Prognosis

Pseudo-Protrusio Acetabular Deformity in Osteogenesis Imperfecta Patients.
Song MH, Kamisan N, Lim C, Shin CH, Yoo WJ, Song HR, Choi IH, Cho TJ
J Pediatr Orthop 2021 Mar 1;41(3):e285-e290. doi: 10.1097/BPO.0000000000001739. PMID: 33534367
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH
Am J Hum Genet 2009 Mar;84(3):307-15. Epub 2009 Feb 19 doi: 10.1016/j.ajhg.2009.01.021. PMID: 19232556Free PMC Article
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.
Gonzales M, Verloes A, Saint Frison MH, Perrotez C, Bourdet O, Encha-Razavi F, Joyé N, Taillemite JL, Walbaum R, Pfeiffer R, Maroteaux P
Am J Med Genet A 2005 Aug 1;136A(4):373-6. doi: 10.1002/ajmg.a.30537. PMID: 15988748
Bruck syndrome: neonatal presentation and natural course in three patients.
Leroy JG, Nuytinck L, De Paepe A, De Rammelaere M, Gillerot Y, Verloes A, Loeys B, De Groote W
Pediatr Radiol 1998 Oct;28(10):781-9. doi: 10.1007/s002470050465. PMID: 9799301
A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet.
Eiken M, Prag J, Petersen KE, Kaufmann HJ
Eur J Pediatr 1984 Feb;141(4):231-5. doi: 10.1007/BF00572767. PMID: 6734674

Clinical prediction guides

Pseudo-Protrusio Acetabular Deformity in Osteogenesis Imperfecta Patients.
Song MH, Kamisan N, Lim C, Shin CH, Yoo WJ, Song HR, Choi IH, Cho TJ
J Pediatr Orthop 2021 Mar 1;41(3):e285-e290. doi: 10.1097/BPO.0000000000001739. PMID: 33534367
Modeling-based bone formation transforms trabeculae to cortical bone in the sclerotic areas in Buschke-Ollendorff syndrome. A case study of two females with LEMD3 variants.
Frost M, Rahbek ET, Ejersted C, Høilund-Carlsen PF, Bygum A, Thomsen JS, Andreasen CM, Andersen TL, Frederiksen AL
Bone 2020 Jun;135:115313. Epub 2020 Mar 6 doi: 10.1016/j.bone.2020.115313. PMID: 32151766
Distal tibiofibular synostosis after surgically resolved ankle fractures: An epidemiological, clinical and morphological evaluation of a patient sample.
Marvan J, Dzupa V, Krbec M, Skala-Rosenbaum J, Bartoska R, Kachlik D, Baca V
Injury 2016 Nov;47(11):2570-2574. Epub 2016 Sep 7 doi: 10.1016/j.injury.2016.09.007. PMID: 27645618
Prophylaxis with indomethacin for heterotopic ossification after Chiari osteotomy of the pelvis.
Randelli G, Romanò CL
J Bone Joint Surg Am 1992 Oct;74(9):1344-6. PMID: 1429789
Non-Majewski short rib-polydactyly syndrome.
Sillence DO
Am J Med Genet 1980;7(2):223-9. doi: 10.1002/ajmg.1320070215. PMID: 7468650

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