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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

Brincidofovir: A Novel Agent for the Treatment of Smallpox.
Huston J, Curtis S, Egelund EF
Ann Pharmacother 2023 Oct;57(10):1198-1206. Epub 2023 Jan 23 doi: 10.1177/10600280231151751. PMID: 36688308
Induction, treatment and prevention of eczema vaccinatum in atopic dermatitis mouse models.
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

Therapy

Was thalidomide a placebo hypnotic?
Justman S
J R Coll Physicians Edinb 2024 Jun;54(2):161-164. Epub 2024 May 28 doi: 10.1177/14782715241258503. PMID: 38807349
Brincidofovir: A Novel Agent for the Treatment of Smallpox.
Huston J, Curtis S, Egelund EF
Ann Pharmacother 2023 Oct;57(10):1198-1206. Epub 2023 Jan 23 doi: 10.1177/10600280231151751. PMID: 36688308
Thalidomide: the tragedy of birth defects and the effective treatment of disease.
Kim JH, Scialli AR
Toxicol Sci 2011 Jul;122(1):1-6. Epub 2011 Apr 19 doi: 10.1093/toxsci/kfr088. PMID: 21507989
Animal models of orthopoxvirus infection.
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
Don't underestimate the enemy.
Nature 2001 Jan 18;409(6818):269. doi: 10.1038/35053282. PMID: 11201701

Prognosis

Sirenomelia: A Case Report.
Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free PMC Article
A review of supernumerary and absent limbs and digits of the upper limb.
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
Surviving sirenomelia.
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
Sirenomelia.
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
Sacrococcygeal dysgenesis association.
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

Brincidofovir: A Novel Agent for the Treatment of Smallpox.
Huston J, Curtis S, Egelund EF
Ann Pharmacother 2023 Oct;57(10):1198-1206. Epub 2023 Jan 23 doi: 10.1177/10600280231151751. PMID: 36688308
Reassessment of Evidence about Coinfection of Chickenpox and Monkeypox (Mpox) in African Children.
Khallafallah O, Grose C
Viruses 2022 Dec 15;14(12) doi: 10.3390/v14122800. PMID: 36560805Free PMC Article
Sirenomelia: A Case Report.
Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free PMC Article
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.
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
Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL.
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

Amputation Versus Limb Reconstruction for Fibula Hemimelia: A Meta-analysis.
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
Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus.
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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