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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

Etiology

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
Information Hazards in Biotechnology.
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
Etiology and pathogenesis of the cohesinopathies.
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
Adventures with poxviruses of vertebrates.
Fenner F
FEMS Microbiol Rev 2000 Apr;24(2):123-33. doi: 10.1016/S0168-6445(00)00027-9. PMID: 10717311
Are female sex hormones teratogenic?
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

Fibular hemimelia.
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
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
Sirenomelia.
Akhtar R, Humayun Y
J Coll Physicians Surg Pak 2010 May;20(5):343-4. PMID: 20642932
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
Upper-extremity congenital anomalies.
Kozin SH
J Bone Joint Surg Am 2003 Aug;85(8):1564-76. doi: 10.2106/00004623-200308000-00021. PMID: 12925640

Therapy

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
Are female sex hormones teratogenic?
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
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

Simultaneous femoral and tibial lengthening for severe limb length discrepancy in fibular hemimelia.
Ghaly HM, El-Rosasy MA, Marei AE, El-Gebaly OA
J Orthop Surg Res 2023 Nov 8;18(1):844. doi: 10.1186/s13018-023-04229-y. PMID: 37936235Free 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
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
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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