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Progressive bowing of long bones

MedGen UID:
341703
•Concept ID:
C1857137
•
Finding
HPO: HP:0006383

Definition

Progressive bending or abnormal curvature of a long bone. [from HPO]

Conditions with this feature

Dysosteosclerosis
MedGen UID:
98150
•Concept ID:
C0432262
•
Disease or Syndrome
A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.
See: Condition Record
Dysosteosclerosis

Professional guidelines

PubMed

Paget's disease of bone: indications for treatment and goals of therapy.
Tiegs RD
Clin Ther 1997 Nov-Dec;19(6):1309-29; discussion 1523-4. doi: 10.1016/s0149-2918(97)80007-0. PMID: 9444442
Osteogenesis imperfecta. Radiographic classification, natural history, and treatment of spinal deformities.
Hanscom DA, Winter RB, Lutter L, Lonstein JE, Bloom BA, Bradford DS
J Bone Joint Surg Am 1992 Apr;74(4):598-616. PMID: 1583055

Recent clinical studies

Etiology

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024;51(3):285-299. Epub 2024 Feb 12 doi: 10.1159/000536324. PMID: 38346409
Wrist Joint Skeletal Changes in Children With Transfusion-dependent Thalassemia.
Dhawan P, Kanojia RK, Chandra J, Kumar A, Anand R, Gupta S
J Pediatr Orthop 2020 Jul;40(6):e473-e478. doi: 10.1097/BPO.0000000000001523. PMID: 32501918
Skeletal Consequences of Nephropathic Cystinosis.
Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT
J Bone Miner Res 2018 Oct;33(10):1870-1880. Epub 2018 Jul 20 doi: 10.1002/jbmr.3522. PMID: 29905968
Manifestations of hereditary multiple exostoses.
Stieber JR, Dormans JP
J Am Acad Orthop Surg 2005 Mar-Apr;13(2):110-20. doi: 10.5435/00124635-200503000-00004. PMID: 15850368
Paget's disease of bone: indications for treatment and goals of therapy.
Tiegs RD
Clin Ther 1997 Nov-Dec;19(6):1309-29; discussion 1523-4. doi: 10.1016/s0149-2918(97)80007-0. PMID: 9444442

Diagnosis

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024;51(3):285-299. Epub 2024 Feb 12 doi: 10.1159/000536324. PMID: 38346409
Rare Variant of PTH1R Mutation in an Indian Family.
Parameswaran AS, Singh K, Vyas V, Tada NK
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116011
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.
Zhytnik L, Duy BH, Eekhoff M, Wisse L, Pals G, Reimann E, Kõks S, Märtson A, Maugeri A, Maasalu K, Micha D
Genes (Basel) 2022 Feb 24;13(3) doi: 10.3390/genes13030407. PMID: 35327962Free PMC Article
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V
J Med Genet 2018 Apr;55(4):278-284. Epub 2018 Jan 22 doi: 10.1136/jmedgenet-2017-104999. PMID: 29358272
Paget's disease of bone: indications for treatment and goals of therapy.
Tiegs RD
Clin Ther 1997 Nov-Dec;19(6):1309-29; discussion 1523-4. doi: 10.1016/s0149-2918(97)80007-0. PMID: 9444442

Therapy

Juvenile Paget's Disease: Report of a successful treatment throughout the complete growth of a patient with a missense TNFRSF11B mutation.
Prata AR, Saraiva J, Salgado M, Estanqueiro P
Joint Bone Spine 2021 Dec;88(6):105243. Epub 2021 Jun 21 doi: 10.1016/j.jbspin.2021.105243. PMID: 34166796
Wrist Joint Skeletal Changes in Children With Transfusion-dependent Thalassemia.
Dhawan P, Kanojia RK, Chandra J, Kumar A, Anand R, Gupta S
J Pediatr Orthop 2020 Jul;40(6):e473-e478. doi: 10.1097/BPO.0000000000001523. PMID: 32501918
A comparative evaluation of tibial metaphyseal-diaphyseal angle changes between physiologic bowing and Blount disease.
Park BK, Park KB, Kwak YH, Jin S, Kim HW, Park H
Medicine (Baltimore) 2019 Apr;98(17):e15349. doi: 10.1097/MD.0000000000015349. PMID: 31027114Free PMC Article
Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine.
Squires LA, Prangley J
Pediatr Neurol 1996 Sep;15(2):172-4. doi: 10.1016/0887-8994(96)00160-9. PMID: 8888056
Juvenile Paget disease: life-long features of a mildly affected young woman.
Golob DS, McAlister WH, Mills BG, Fedde KN, Reinus WR, Teitelbaum SL, Beeki S, Whyte MP
J Bone Miner Res 1996 Jan;11(1):132-42. doi: 10.1002/jbmr.5650110118. PMID: 8770706

Prognosis

Rare Variant of PTH1R Mutation in an Indian Family.
Parameswaran AS, Singh K, Vyas V, Tada NK
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116011
A comparative evaluation of tibial metaphyseal-diaphyseal angle changes between physiologic bowing and Blount disease.
Park BK, Park KB, Kwak YH, Jin S, Kim HW, Park H
Medicine (Baltimore) 2019 Apr;98(17):e15349. doi: 10.1097/MD.0000000000015349. PMID: 31027114Free PMC Article
Guided growth for tibia vara (Blount's disease).
Heflin JA, Ford S, Stevens P
Medicine (Baltimore) 2016 Oct;95(41):e4951. doi: 10.1097/MD.0000000000004951. PMID: 27741108Free PMC Article
Hemiepiphysiodesis for the correction of angular deformity about the knee.
Castañeda P, Urquhart B, Sullivan E, Haynes RJ
J Pediatr Orthop 2008 Mar;28(2):188-91. doi: 10.1097/BPO.0b013e3181653ade. PMID: 18388714
Radiological manifestations of the skeleton, lungs and brain in Stueve-Wiedemann syndrome.
Langer R, Al-Gazali L, Raupp P, Varady E
Australas Radiol 2007 Jun;51(3):203-10. doi: 10.1111/j.1440-1673.2007.01714.x. PMID: 17504309

Clinical prediction guides

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024;51(3):285-299. Epub 2024 Feb 12 doi: 10.1159/000536324. PMID: 38346409
Skeletal Consequences of Nephropathic Cystinosis.
Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT
J Bone Miner Res 2018 Oct;33(10):1870-1880. Epub 2018 Jul 20 doi: 10.1002/jbmr.3522. PMID: 29905968
Guided growth for tibia vara (Blount's disease).
Heflin JA, Ford S, Stevens P
Medicine (Baltimore) 2016 Oct;95(41):e4951. doi: 10.1097/MD.0000000000004951. PMID: 27741108Free PMC Article
Focal fibrocartilaginous dysplasia of long bones: report of eight additional cases and literature review.
Choi IH, Kim CJ, Cho TJ, Chung CY, Song KS, Hwang JK, Sohn YJ
J Pediatr Orthop 2000 Jul-Aug;20(4):421-7. PMID: 10912595
Paget's disease of bone: indications for treatment and goals of therapy.
Tiegs RD
Clin Ther 1997 Nov-Dec;19(6):1309-29; discussion 1523-4. doi: 10.1016/s0149-2918(97)80007-0. PMID: 9444442

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