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Mesomelic dysplasia

MedGen UID:
593147
Concept ID:
C0410536
Disease or Syndrome
Synonyms: Mesomelic dwarf; Mesomelic Dysplasia; mesomelic dysplasia; mesomelic dysplasias
SNOMED CT: Mesomelic dysplasia (205473008)
 
Monarch Initiative: MONDO:0023599

Definition

Mesomelic dysplasia is shortening of the middle or intermediate portion of the limb. In the upper limb this is relative shortening of the radius and ulna, in the lower limb the tibia and fibula. [from SNOMEDCT_US]

Professional guidelines

PubMed

Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573
Albuisson J, Schmitt S, Baron S, Bézieau S, Benito-Sanz S, Heath KE
Eur J Hum Genet 2012 Aug;20(8) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.64. PMID: 22510850Free PMC Article
Ryu JK, Cho JY, Choi JS
Korean J Radiol 2003 Oct-Dec;4(4):243-51. doi: 10.3348/kjr.2003.4.4.243. PMID: 14726642Free PMC Article

Recent clinical studies

Etiology

Sezer A, Perçin FE, Kazan HH, Kayhan G, Akturk M
Am J Med Genet A 2022 Jun;188(6):1890-1895. Epub 2022 Mar 6 doi: 10.1002/ajmg.a.62713. PMID: 35253374
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448
Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M
J Med Genet 2015 Jul;52(7):476-83. Epub 2015 Jun 1 doi: 10.1136/jmedgenet-2015-103108. PMID: 26032025
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE
Eur J Hum Genet 2011 Dec;19(12):1218-25. Epub 2011 Jun 29 doi: 10.1038/ejhg.2011.128. PMID: 21712857Free PMC Article
Siwicka KA, Kitoh H, Nishiyama M, Ishiguro N
J Pediatr Orthop B 2008 Sep;17(5):271-6. doi: 10.1097/BPB.0b013e32830cc3c8. PMID: 19471182

Diagnosis

Spurna Z, Capkova P, Srovnal J, Duchoslavova J, Punova L, Aleksijevic D, Vrtel R
Gene 2022 Apr 15;818:146238. Epub 2022 Jan 22 doi: 10.1016/j.gene.2022.146238. PMID: 35074420
Ambrosetti F, Palicelli A, Bulfamante G, Rivasi F
Fetal Pediatr Pathol 2014 Apr;33(2):71-83. Epub 2013 Jul 24 doi: 10.3109/15513815.2013.807322. PMID: 23883335
Aggarwal V, Aggarwal N, Venkat B
J Pediatr Orthop B 2014 Mar;23(2):200-2. doi: 10.1097/BPB.0b013e3283642242. PMID: 23863349
Gahunia HK, Babyn PS, Kirsch S, Mendoza-Londono R
Semin Musculoskelet Radiol 2009 Sep;13(3):236-54. Epub 2009 Sep 1 doi: 10.1055/s-0029-1237691. PMID: 19724992
Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K
Am J Med Genet 1990 Sep;37(1):10-4. doi: 10.1002/ajmg.1320370104. PMID: 2240023

Therapy

Iughetti L, Madeo S, Predieri B
J Endocrinol Invest 2010 Jun;33(6 Suppl):34-8. PMID: 21057184
Shah BC, Moran ES, Zinn AR, Pappas JG
J Clin Endocrinol Metab 2009 Dec;94(12):5028-33. Epub 2009 Oct 22 doi: 10.1210/jc.2009-0679. PMID: 19850687

Prognosis

Sezer A, Perçin FE, Kazan HH, Kayhan G, Akturk M
Am J Med Genet A 2022 Jun;188(6):1890-1895. Epub 2022 Mar 6 doi: 10.1002/ajmg.a.62713. PMID: 35253374
Albuisson J, Schmitt S, Baron S, Bézieau S, Benito-Sanz S, Heath KE
Eur J Hum Genet 2012 Aug;20(8) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.64. PMID: 22510850Free PMC Article
Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM
Am J Med Genet 2002 Jun 15;110(2):153-7. doi: 10.1002/ajmg.10421. PMID: 12116253
Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S
Am J Med Genet 2002 May 1;109(3):206-10. doi: 10.1002/ajmg.10283. PMID: 11977180
Kantaputra PN, Gorlin RJ, Langer LO Jr
Am J Med Genet 1992 Dec 1;44(6):730-7. doi: 10.1002/ajmg.1320440606. PMID: 1481840

Clinical prediction guides

Sezer A, Perçin FE, Kazan HH, Kayhan G, Akturk M
Am J Med Genet A 2022 Jun;188(6):1890-1895. Epub 2022 Mar 6 doi: 10.1002/ajmg.a.62713. PMID: 35253374
Whitmore KM, Buzon MR
Int J Paleopathol 2019 Sep;26:135-144. Epub 2019 Aug 1 doi: 10.1016/j.ijpp.2019.07.006. PMID: 31377579
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE
Eur J Hum Genet 2011 Dec;19(12):1218-25. Epub 2011 Jun 29 doi: 10.1038/ejhg.2011.128. PMID: 21712857Free PMC Article
Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM
Am J Med Genet 2002 Jun 15;110(2):153-7. doi: 10.1002/ajmg.10421. PMID: 12116253
Blaschke RJ, Rappold GA
Trends Endocrinol Metab 2000 Aug;11(6):227-30. doi: 10.1016/s1043-2760(00)00262-9. PMID: 10878753

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