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Abnormal antihelix morphology

MedGen UID:
867037
Concept ID:
C4021395
Anatomical Abnormality
Synonym: Abnormality of the antihelix
 
HPO: HP:0009738

Definition

An abnormality of the antihelix. [from HPO]

Conditions with this feature

Upper limb defect-eye and ear abnormalities syndrome
MedGen UID:
376448
Concept ID:
C1848816
Disease or Syndrome
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.

Professional guidelines

PubMed

Fan L, Ren X, Song Y, Su C, Fu J, Gong C
Orphanet J Rare Dis 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. PMID: 31888681Free PMC Article
van Wijk MP, Breugem CC, Kon M
J Plast Reconstr Aesthet Surg 2012 Jan;65(1):54-60. Epub 2011 Sep 7 doi: 10.1016/j.bjps.2011.08.021. PMID: 21903493
Azuara E
Arch Facial Plast Surg 2000 Jan-Mar;2(1):57-61. doi: 10.1001/archfaci.2.1.57. PMID: 10925426

Recent clinical studies

Etiology

Angelakopoulos N, Franco A, Sezgin N, Cevik ZA, Canturk N, Panciera MC, Pinto PHV, Alves da Silva RH, Balla SB, Kumagai A, Zolotenkova G, Silveira Sousa AM, Ferrante L, Cameriere R
Morphologie 2023 Dec;107(359):100602. Epub 2023 May 23 doi: 10.1016/j.morpho.2023.05.001. PMID: 37230829
Dong L
J Plast Reconstr Aesthet Surg 2023 May;80:36-47. Epub 2023 Feb 9 doi: 10.1016/j.bjps.2023.02.007. PMID: 36989881
Ors S
Aesthetic Plast Surg 2020 Oct;44(5):1522-1528. Epub 2020 May 21 doi: 10.1007/s00266-020-01757-4. PMID: 32483667
Mayer HF, Loustau HD
Aesthetic Plast Surg 2018 Feb;42(1):159-164. Epub 2017 Dec 12 doi: 10.1007/s00266-017-1034-5. PMID: 29234856
Emery BE
Facial Plast Surg Clin North Am 2001 Feb;9(1):147-57. PMID: 11465001

Diagnosis

Li J, Tan J, Yang D, Chen L
BMC Pediatr 2023 Mar 3;23(1):101. doi: 10.1186/s12887-023-03916-3. PMID: 36869317Free PMC Article
Assis MS, Miranda LS
BMC Surg 2022 May 14;22(1):182. doi: 10.1186/s12893-022-01587-y. PMID: 35568829Free PMC Article
Schneider G, Voigt S, Rettinger G
Eur Arch Otorhinolaryngol 2016 Sep;273(9):2427-32. Epub 2015 Nov 6 doi: 10.1007/s00405-015-3797-0. PMID: 26541715
Oberg M, Becker M, Arktander M, Centerman M, Svensson H, Wikström S
Scand J Plast Reconstr Surg Hand Surg 2008;42(4):190-3. doi: 10.1080/02844310802098458. PMID: 18763194
Emery BE
Facial Plast Surg Clin North Am 2001 Feb;9(1):147-57. PMID: 11465001

Therapy

Assis MS, Miranda LS
BMC Surg 2022 May 14;22(1):182. doi: 10.1186/s12893-022-01587-y. PMID: 35568829Free PMC Article
Kang NV, Sabbagh W, O'Toole G, Silberberg M
Laryngoscope 2018 Oct;128(10):2282-2290. Epub 2018 Apr 15 doi: 10.1002/lary.27197. PMID: 29658102Free PMC Article

Prognosis

Uehara T, Takenouchi T, Yamaguchi Y, Daimon Y, Suzuki H, Sakaguchi Y, Kosaki K
Am J Med Genet A 2019 Apr;179(4):659-662. Epub 2019 Feb 15 doi: 10.1002/ajmg.a.61068. PMID: 30768759
Schneider G, Voigt S, Rettinger G
Eur Arch Otorhinolaryngol 2016 Sep;273(9):2427-32. Epub 2015 Nov 6 doi: 10.1007/s00405-015-3797-0. PMID: 26541715
Janz BA, Cole P, Hollier LH Jr, Stal S
Plast Reconstr Surg 2009 Jul;124(1 Suppl):27e-37e. doi: 10.1097/PRS.0b013e3181aa0e9d. PMID: 19568137
Vital V, Printza A
J Laryngol Otol 2002 Sep;116(9):682-5. doi: 10.1258/002221502760237948. PMID: 12437800
Emery BE
Facial Plast Surg Clin North Am 2001 Feb;9(1):147-57. PMID: 11465001

Clinical prediction guides

Dong L
J Plast Reconstr Aesthet Surg 2023 May;80:36-47. Epub 2023 Feb 9 doi: 10.1016/j.bjps.2023.02.007. PMID: 36989881
Ors S
Aesthetic Plast Surg 2020 Oct;44(5):1522-1528. Epub 2020 May 21 doi: 10.1007/s00266-020-01757-4. PMID: 32483667
Mayer HF, Loustau HD
Aesthetic Plast Surg 2018 Feb;42(1):159-164. Epub 2017 Dec 12 doi: 10.1007/s00266-017-1034-5. PMID: 29234856
Janz BA, Cole P, Hollier LH Jr, Stal S
Plast Reconstr Surg 2009 Jul;124(1 Suppl):27e-37e. doi: 10.1097/PRS.0b013e3181aa0e9d. PMID: 19568137
Wallach SG, Argamaso RV
Plast Reconstr Surg 2001 Jul;108(1):30-7. doi: 10.1097/00006534-200107000-00006. PMID: 11420501

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