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Ectromelia

MedGen UID:
3966
Concept ID:
C0013589
Congenital Abnormality
Synonyms: Congenital Limb Reduction Deformities; Congenital Limb Reduction Deformity
SNOMED CT: Ectromelia (43036001)

Definition

A congenital defect characterized by the absence or hypoplasia of one or more extremities. [from NCI]

Professional guidelines

PubMed

Huston J, Curtis S, Egelund EF
Ann Pharmacother 2023 Oct;57(10):1198-1206. Epub 2023 Jan 23 doi: 10.1177/10600280231151751. PMID: 36688308
Achdout H, Lustig S, Israely T, Erez N, Politi B, Tamir H, Israeli O, Waner T, Melamed S, Paran N
Vaccine 2017 Jul 24;35(33):4245-4254. Epub 2017 Jun 20 doi: 10.1016/j.vaccine.2017.06.014. PMID: 28625523

Recent clinical studies

Etiology

Javed HS, Khalid MI
J Pak Med Assoc 2023 Apr;73(4):915-918. doi: 10.47391/JPMA.6073. PMID: 37052015
Lewis G, Millett P, Sandberg A, Snyder-Beattie A, Gronvall G
Risk Anal 2019 May;39(5):975-981. Epub 2018 Nov 12 doi: 10.1111/risa.13235. PMID: 30419157Free PMC Article
Zakari M, Yuen K, Gerton JL
Wiley Interdiscip Rev Dev Biol 2015 Sep-Oct;4(5):489-504. Epub 2015 Apr 7 doi: 10.1002/wdev.190. PMID: 25847322Free PMC Article
Pinette MG, Hand M, Hunt RC, Blackstone J, Wax JR, Cartin A
J Ultrasound Med 2005 Nov;24(11):1555-9. doi: 10.7863/jum.2005.24.11.1555. PMID: 16239660
Fenner F
FEMS Microbiol Rev 2000 Apr;24(2):123-33. doi: 10.1016/S0168-6445(00)00027-9. PMID: 10717311

Diagnosis

Georgescu T, Ionescu O, Toader OD, Bacalbasa N, Pop LG
J Med Life 2022 Apr;15(4):587-588. doi: 10.25122/jml-2021-0397. PMID: 35646168Free PMC Article
Shojaee A, Ronnasian F, Behnam M, Salehi M
J Med Case Rep 2021 Apr 26;15(1):217. doi: 10.1186/s13256-021-02699-4. PMID: 33902682Free PMC Article
Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free PMC Article
Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A
Indian J Pediatr 2003 Jul;70(7):589-91. doi: 10.1007/BF02723165. PMID: 12940384
Kozin SH
J Bone Joint Surg Am 2003 Aug;85(8):1564-76. doi: 10.2106/00004623-200308000-00021. PMID: 12925640

Therapy

Justman S
J R Coll Physicians Edinb 2024 Jun;54(2):161-164. Epub 2024 May 28 doi: 10.1177/14782715241258503. PMID: 38807349
Huston J, Curtis S, Egelund EF
Ann Pharmacother 2023 Oct;57(10):1198-1206. Epub 2023 Jan 23 doi: 10.1177/10600280231151751. PMID: 36688308
Kim JH, Scialli AR
Toxicol Sci 2011 Jul;122(1):1-6. Epub 2011 Apr 19 doi: 10.1093/toxsci/kfr088. PMID: 21507989
Nature 2001 Jan 18;409(6818):269. doi: 10.1038/35053282. PMID: 11201701
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free PMC Article
Klaassen Z, Choi M, Musselman R, Eapen D, Tubbs RS, Loukas M
Surg Radiol Anat 2012 Mar;34(2):101-6. Epub 2011 Nov 9 doi: 10.1007/s00276-011-0871-1. PMID: 22068244
Pinette MG, Hand M, Hunt RC, Blackstone J, Wax JR, Cartin A
J Ultrasound Med 2005 Nov;24(11):1555-9. doi: 10.7863/jum.2005.24.11.1555. PMID: 16239660
Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A
Indian J Pediatr 2003 Jul;70(7):589-91. doi: 10.1007/BF02723165. PMID: 12940384
Duncan PA, Shapiro LR, Klein RM
Am J Med Genet 1991 Nov 1;41(2):153-61. doi: 10.1002/ajmg.1320410203. PMID: 1785625

Clinical prediction guides

Huston J, Curtis S, Egelund EF
Ann Pharmacother 2023 Oct;57(10):1198-1206. Epub 2023 Jan 23 doi: 10.1177/10600280231151751. PMID: 36688308
Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free PMC Article
Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ
Birth Defects Res 2017 Jun 1;109(10):791-804. Epub 2017 May 16 doi: 10.1002/bdr2.1049. PMID: 28509418
Ramshaw IA, Ramsay AJ, Karupiah G, Rolph MS, Mahalingam S, Ruby JC
Immunol Rev 1997 Oct;159:119-35. doi: 10.1111/j.1600-065x.1997.tb01011.x. PMID: 9416507
Schüler L, Salzano FM
Am J Med Genet 1994 Jan 1;49(1):29-35. doi: 10.1002/ajmg.1320490108. PMID: 8172248

Recent systematic reviews

Elmherig A, Ahmed AF, Hegazy A, Herzenberg JE, Ibrahim T
J Pediatr Orthop 2020 Sep;40(8):425-430. doi: 10.1097/BPO.0000000000001510. PMID: 31972725
Tonni G, Grisolia G
Arch Gynecol Obstet 2013 Jul;288(1):3-11. Epub 2013 Apr 27 doi: 10.1007/s00404-013-2847-3. PMID: 23625330

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