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Abnormality of carpal bone ossification

MedGen UID:
870624
Concept ID:
C4025075
Finding
Synonym: Abnormal wrist bone maturation
 
HPO: HP:0006257

Conditions with this feature

Lipodystrophy-intellectual disability-deafness syndrome
MedGen UID:
334166
Concept ID:
C1842465
Disease or Syndrome
Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.

Professional guidelines

PubMed

D'Agostino P, Townley WA, Le Viet D, Roulot E
J Hand Surg Am 2011 Nov;36(11):1785-9. Epub 2011 Oct 5 doi: 10.1016/j.jhsa.2011.07.023. PMID: 21975097
Matsuno T, Ishida O, Sunagawa T, Suzuki O, Ikuta Y, Ochi M
J Hand Surg Am 2006 May-Jun;31(5):822-9. doi: 10.1016/j.jhsa.2006.01.017. PMID: 16713850

Recent clinical studies

Etiology

Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V
Am J Hum Genet 2014 Mar 6;94(3):405-14. Epub 2014 Feb 27 doi: 10.1016/j.ajhg.2014.01.020. PMID: 24581741Free PMC Article
Kim JH, Rhee SH, Gong HS, Lee HJ, Kwon ST, Baek GH
J Hand Surg Eur Vol 2013 Mar;38(3):257-64. Epub 2012 Oct 11 doi: 10.1177/1753193412462895. PMID: 23060462
Friedman T, Reed M, Elliott AM
Skeletal Radiol 2009 Jun;38(6):585-91. Epub 2009 Jan 30 doi: 10.1007/s00256-008-0638-x. PMID: 19183988
Cooper HA, Crowe J, Butler MG
Am J Med Genet 2000 May 1;92(1):33-9. doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u. PMID: 10797420Free PMC Article
Kristmundsdottir F, Burwell RG, Hall DJ, Marshall WA
Clin Orthop Relat Res 1986 Aug;(209):115-23. PMID: 3731584

Diagnosis

Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A
J Med Genet 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. PMID: 37586838Free PMC Article
Forster KR, Hooper JE, Blakemore KJ, Baschat AA, Hoover-Fong J
Am J Med Genet A 2019 Dec;179(12):2490-2493. Epub 2019 Oct 6 doi: 10.1002/ajmg.a.61372. PMID: 31587486
Hsu PA, Light TR
Hand Clin 2006 Nov;22(4):447-63; abstract vi. doi: 10.1016/j.hcl.2006.08.002. PMID: 17097466
Cooper HA, Crowe J, Butler MG
Am J Med Genet 2000 May 1;92(1):33-9. doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u. PMID: 10797420Free PMC Article
Doman AN, Marcus NW
J Hand Surg Am 1990 Nov;15(6):869-73. doi: 10.1016/0363-5023(90)90005-c. PMID: 2269775

Therapy

Field RE, Buchanan JA, Copplemans MG, Aichroth PM
J Bone Joint Surg Br 1994 Nov;76(6):975-81. PMID: 7983131

Prognosis

Hajalioghli P, Tarzamni MK, Arami S, Fouladi DF, Ghojazadeh M
Skeletal Radiol 2015 Sep;44(9):1351-6. Epub 2015 May 31 doi: 10.1007/s00256-015-2175-8. PMID: 26025121
D'Agostino P, Townley WA, Le Viet D, Roulot E
J Hand Surg Am 2011 Nov;36(11):1785-9. Epub 2011 Oct 5 doi: 10.1016/j.jhsa.2011.07.023. PMID: 21975097
van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP
Am J Med Genet A 2008 Sep 15;146A(18):2376-84. doi: 10.1002/ajmg.a.32482. PMID: 18698629
Peterson BM, McCarroll HR Jr, James MA
J Hand Surg Am 2007 Nov;32(9):1402-7. doi: 10.1016/j.jhsa.2007.07.024. PMID: 17996775
McDonald K, Toms AP, Armon K, Johnson K, Marshall TJ
Skeletal Radiol 2007 Nov;36(11):1097-101. Epub 2007 Jul 6 doi: 10.1007/s00256-007-0346-y. PMID: 17618432

Clinical prediction guides

Carinhena G, Siqueira DF, Sannomiya EK
Dental Press J Orthod 2014 Jul-Aug;19(4):58-65. doi: 10.1590/2176-9451.19.4.058-065.oar. PMID: 25279522Free PMC Article
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V
Am J Hum Genet 2014 Mar 6;94(3):405-14. Epub 2014 Feb 27 doi: 10.1016/j.ajhg.2014.01.020. PMID: 24581741Free PMC Article
dos Santos LR, de Melo Castilho JC, Pinto SC, Borges AH, Tonetto MR, Lima DM, Bandéca MC, da Silva MA
J Contemp Dent Pract 2013 Jan 1;14(1):4-8. doi: 10.5005/jp-journals-10024-1260. PMID: 23579884
Kim JH, Rhee SH, Gong HS, Lee HJ, Kwon ST, Baek GH
J Hand Surg Eur Vol 2013 Mar;38(3):257-64. Epub 2012 Oct 11 doi: 10.1177/1753193412462895. PMID: 23060462
van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP
Am J Med Genet A 2008 Sep 15;146A(18):2376-84. doi: 10.1002/ajmg.a.32482. PMID: 18698629

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