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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

Khallafallah O, Grose C
Viruses 2022 Dec 15;14(12) doi: 10.3390/v14122800. PMID: 36560805Free 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
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
Wilson JG, Brent RL
Am J Obstet Gynecol 1981 Nov 1;141(5):567-80. doi: 10.1016/s0002-9378(15)33279-8. PMID: 6271011

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
Skibbens RV, Colquhoun JM, Green MJ, Molnar CA, Sin DN, Sullivan BJ, Tanzosh EE
PLoS Genet 2013;9(12):e1004036. Epub 2013 Dec 19 doi: 10.1371/journal.pgen.1004036. PMID: 24367282Free PMC Article
Akhtar R, Humayun Y
J Coll Physicians Surg Pak 2010 May;20(5):343-4. PMID: 20642932
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

Therapy

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
Chapman JL, Nichols DK, Martinez MJ, Raymond JW
Vet Pathol 2010 Sep;47(5):852-70. Epub 2010 Aug 3 doi: 10.1177/0300985810378649. PMID: 20682806
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article
Super M, Muller A
S Afr Med J 1972 Apr 15;46(16):488. PMID: 5033176

Prognosis

Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free 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
Bhardwaj AP
Indian Pediatr 2004 Feb;41(2):196. PMID: 15004311
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
Khallafallah O, Grose C
Viruses 2022 Dec 15;14(12) doi: 10.3390/v14122800. PMID: 36560805Free 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
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

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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