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Absent epiphyses

MedGen UID:
867483
Concept ID:
C4021862
Anatomical Abnormality
Synonym: Absent end part of bone
 
HPO: HP:0010577

Conditions with this feature

CODAS syndrome
MedGen UID:
333031
Concept ID:
C1838180
Disease or Syndrome
CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).

Professional guidelines

PubMed

Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q
Clin Chim Acta 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18 doi: 10.1016/j.cca.2007.09.006. PMID: 17920052
Rogol AD
Endocr J 1996 Oct;43(Suppl):S5-11. doi: 10.1507/endocrj.43.suppl_s5. PMID: 9076336

Recent clinical studies

Etiology

Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE
Am J Med Genet A 2020 Oct;182(10):2214-2221. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61782. PMID: 32783359Free PMC Article
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG
J Pediatr Orthop 2014 Sep;34(6):585-90. doi: 10.1097/BPO.0000000000000183. PMID: 24705347
Laor T, Jaramillo D, Hoffer FA, Kasser JR
Pediatr Radiol 1996;26(6):381-7. doi: 10.1007/BF01387310. PMID: 8657473
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Diagnosis

Sathyanarayanan, Ramkumar, Dinesh S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443324
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Ballas MT, Tytko J, Mannarino F
Am Fam Physician 1998 Jan 15;57(2):267-74. PMID: 9456991
Rogol AD
Endocr J 1996 Oct;43(Suppl):S5-11. doi: 10.1507/endocrj.43.suppl_s5. PMID: 9076336
De Laey JJ
Bull Soc Belge Ophtalmol 1991;241:41-50. PMID: 1840995

Therapy

Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):353-363. Epub 2023 Feb 20 doi: 10.1515/jpem-2022-0101. PMID: 36798001
Khandare AL, Harikumar R, Sivakumar B
Calcif Tissue Int 2005 Jun;76(6):412-8. Epub 2005 May 19 doi: 10.1007/s00223-005-0233-2. PMID: 15895280
McCall GE, Goulet C, Roy RR, Grindeland RE, Boorman GI, Bigbee AJ, Hodgson JA, Greenisen MC, Edgerton VR
J Appl Physiol (1985) 1999 Sep;87(3):1207-12. doi: 10.1152/jappl.1999.87.3.1207. PMID: 10484597
Rogol AD
Endocr J 1996 Oct;43(Suppl):S5-11. doi: 10.1507/endocrj.43.suppl_s5. PMID: 9076336
Jiang CC, Shih TT
Radiology 1994 May;191(2):409-12. doi: 10.1148/radiology.191.2.8153314. PMID: 8153314

Prognosis

Brown DW, Iorio TJ, Mosher ZA, Beaty JH, Warner WC Jr, Sawyer JR, Spence DD, Sheffer BW, Kelly DM
J Pediatr Orthop 2021 Mar 1;41(3):159-163. doi: 10.1097/BPO.0000000000001733. PMID: 33332871
Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE
Am J Med Genet A 2020 Oct;182(10):2214-2221. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61782. PMID: 32783359Free PMC Article
Parikh AK, Washington ER 4th, Bobbey AJ, Spottswood SE
Pediatr Radiol 2018 Mar;48(3):350-358. Epub 2017 Nov 27 doi: 10.1007/s00247-017-4030-7. PMID: 29181581
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Sathyanarayanan, Ramkumar, Dinesh S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443324
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Bohndorf K
Eur Radiol 1998;8(1):103-12. doi: 10.1007/s003300050348. PMID: 9442140
Cohen MM Jr, Kreiborg S
Am J Med Genet 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. PMID: 8266987
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

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