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Abnormality of skeletal maturation

MedGen UID:
871330
•Concept ID:
C4025818
•
Anatomical Abnormality
HPO: HP:0000927

Definition

The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. [from HPO]

Professional guidelines

PubMed

Epidemiology, Staging, and Management of Multiple Myeloma.
Padala SA, Barsouk A, Barsouk A, Rawla P, Vakiti A, Kolhe R, Kota V, Ajebo GH
Med Sci (Basel) 2021 Jan 20;9(1) doi: 10.3390/medsci9010003. PMID: 33498356Free PMC Article
Clinical Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome.
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Management of the protuberant premaxilla: where does it fit in?
Morris L
Curr Opin Otolaryngol Head Neck Surg 2019 Aug;27(4):302-309. doi: 10.1097/MOO.0000000000000558. PMID: 31219831

Recent clinical studies

Etiology

Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Liu F, Liang C, Li Z, Zhao S, Yuan H, Yao R, Qin Z, Shangguan S, Zhang S, Zou LP, Chen Q, Gao Z, Wen S, Peng J, Yin F, Chen F, Qiu X, Luo J, Xie Y, Lu D, Zhang Y, Xie H, Li G, Zhang TJ, Luan P, Wang H, Cui X, Huang H, Liu R, Sun X, Chen C, Wu N, Wang J, Liu C, Shen Y, Gusella JF, Chen X
Brain 2023 Aug 1;146(8):3347-3363. doi: 10.1093/brain/awad071. PMID: 36869767
Epidemiology, Staging, and Management of Multiple Myeloma.
Padala SA, Barsouk A, Barsouk A, Rawla P, Vakiti A, Kolhe R, Kota V, Ajebo GH
Med Sci (Basel) 2021 Jan 20;9(1) doi: 10.3390/medsci9010003. PMID: 33498356Free PMC Article
Blount disease.
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Hereditary inclusion-body myopathies.
Broccolini A, Mirabella M
Biochim Biophys Acta 2015 Apr;1852(4):644-50. Epub 2014 Aug 19 doi: 10.1016/j.bbadis.2014.08.007. PMID: 25149037

Diagnosis

Imaging of Congenital Skeletal Disorders.
Aparisi Gómez MP, Trisolino G, Sangiorgi L, Guglielmi G, Bazzocchi A
Semin Musculoskelet Radiol 2021 Feb;25(1):22-38. Epub 2021 May 21 doi: 10.1055/s-0041-1723964. PMID: 34020466
Epidemiology, Staging, and Management of Multiple Myeloma.
Padala SA, Barsouk A, Barsouk A, Rawla P, Vakiti A, Kolhe R, Kota V, Ajebo GH
Med Sci (Basel) 2021 Jan 20;9(1) doi: 10.3390/medsci9010003. PMID: 33498356Free PMC Article
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Blount disease.
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article

Therapy

Should Skeletal Maturation Be Manipulated for Extra Height Gain?
Wit JM
Front Endocrinol (Lausanne) 2021;12:812196. Epub 2021 Dec 16 doi: 10.3389/fendo.2021.812196. PMID: 34975773Free PMC Article
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Skeletal maturation and long-bone growth patterns of patients with progeria: a retrospective study.
Tsai A, Johnston PR, Gordon LB, Walters M, Kleinman M, Laor T
Lancet Child Adolesc Health 2020 Apr;4(4):281-289. Epub 2020 Feb 28 doi: 10.1016/S2352-4642(20)30023-7. PMID: 32119840Free PMC Article
Non-classic congenital adrenal hyperplasia.
Witchel SF
Steroids 2013 Aug;78(8):747-50. Epub 2013 Apr 28 doi: 10.1016/j.steroids.2013.04.010. PMID: 23632099
Androgens and bone.
De Oliveira DH, Fighera TM, Bianchet LC, Kulak CA, Kulak J
Minerva Endocrinol 2012 Dec;37(4):305-14. PMID: 23235187

Prognosis

Should Skeletal Maturation Be Manipulated for Extra Height Gain?
Wit JM
Front Endocrinol (Lausanne) 2021;12:812196. Epub 2021 Dec 16 doi: 10.3389/fendo.2021.812196. PMID: 34975773Free PMC Article
Imaging of Congenital Skeletal Disorders.
Aparisi Gómez MP, Trisolino G, Sangiorgi L, Guglielmi G, Bazzocchi A
Semin Musculoskelet Radiol 2021 Feb;25(1):22-38. Epub 2021 May 21 doi: 10.1055/s-0041-1723964. PMID: 34020466
Epidemiology, Staging, and Management of Multiple Myeloma.
Padala SA, Barsouk A, Barsouk A, Rawla P, Vakiti A, Kolhe R, Kota V, Ajebo GH
Med Sci (Basel) 2021 Jan 20;9(1) doi: 10.3390/medsci9010003. PMID: 33498356Free PMC Article
Blount disease.
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article

Clinical prediction guides

Imaging Review of Normal and Abnormal Skeletal Maturation.
Augusto ACL, Goes PCK, Flores DV, Costa MAF, Takahashi MS, Rodrigues ACO, Padula LC, Gasparetto TD, Nogueira-Barbosa MH, Aihara AY
Radiographics 2022 May-Jun;42(3):861-879. Epub 2022 Feb 25 doi: 10.1148/rg.210088. PMID: 35213260
Should Skeletal Maturation Be Manipulated for Extra Height Gain?
Wit JM
Front Endocrinol (Lausanne) 2021;12:812196. Epub 2021 Dec 16 doi: 10.3389/fendo.2021.812196. PMID: 34975773Free PMC Article
Blount disease.
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
The Chitranjan Ranawat award: is neutral mechanical alignment normal for all patients? The concept of constitutional varus.
Bellemans J, Colyn W, Vandenneucker H, Victor J
Clin Orthop Relat Res 2012 Jan;470(1):45-53. doi: 10.1007/s11999-011-1936-5. PMID: 21656315Free PMC Article

Recent systematic reviews

Skeletal Maturation in Patients With Cleft Lip and/or Palate: A Systematic Review.
Wu X, Kuang W, Zheng J, Yang Z, Ren M, Yang R, Yuan W
Cleft Palate Craniofac J 2022 Mar;59(3):307-319. Epub 2021 Apr 8 doi: 10.1177/10556656211007680. PMID: 33827285
Maxillofacial manifestations of Proteus syndrome: a systematic review with a case report.
Munhoz L, Arita ES, Nishimura DA, Watanabe PCA
Oral Radiol 2021 Jan;37(1):2-12. Epub 2019 Nov 16 doi: 10.1007/s11282-019-00416-y. PMID: 31734933
What Is the Association Between Sports Participation and the Development of Proximal Femoral Cam Deformity? A Systematic Review and Meta-analysis.
Nepple JJ, Vigdorchik JM, Clohisy JC
Am J Sports Med 2015 Nov;43(11):2833-40. Epub 2015 Jan 13 doi: 10.1177/0363546514563909. PMID: 25587186
The incidence of avascular necrosis and the radiographic outcome following medial open reduction in children with developmental dysplasia of the hip: a systematic review.
Gardner RO, Bradley CS, Howard A, Narayanan UG, Wedge JH, Kelley SP
Bone Joint J 2014 Feb;96-B(2):279-86. doi: 10.1302/0301-620X.96B2.32361. PMID: 24493198
Recombinant growth hormone for children and adolescents with Turner syndrome.
Baxter L, Bryant J, Cave CB, Milne R
Cochrane Database Syst Rev 2007 Jan 24;(1):CD003887. doi: 10.1002/14651858.CD003887.pub2. PMID: 17253498

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