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Absent stapes head

MedGen UID:
867506
Concept ID:
C4021888
Anatomical Abnormality
HPO: HP:0200111

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent stapes head

Conditions with this feature

Thickened earlobes-conductive deafness syndrome
MedGen UID:
343676
Concept ID:
C1851896
Finding
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.

Professional guidelines

PubMed

Moon CN Jr, Hahn MJ
Laryngoscope 1981 Aug;91(8):1298-307. doi: 10.1288/00005537-198108000-00012. PMID: 6790887

Recent clinical studies

Etiology

Burkett BJ, Oien MP, Benson JC, Nassiri AM, Carlson ML, Lane JI
Clin Neuroradiol 2023 Sep;33(3):645-651. Epub 2023 Jan 2 doi: 10.1007/s00062-022-01251-1. PMID: 36593357
Plichta L, Dabkowska A, Wawszczyk-Frohlich S, Skarzynski H, Henryk Skarzynski P
J Int Adv Otol 2022 Sep;18(5):411-414. doi: 10.5152/iao.2022.21369. PMID: 36063097Free PMC Article
Nassiri AM, Benson JC, Doerfer KW, Perkins EL, Sweeney AD, Patel NS, Babu SC, Rivas A, Lane JI, Carlson ML
Am J Otolaryngol 2021 Nov-Dec;42(6):103144. Epub 2021 Jun 18 doi: 10.1016/j.amjoto.2021.103144. PMID: 34171699
Khoo HW, Choong CC, Yeo SB, Goh JP, Tan TY
Ann Acad Med Singap 2020 Jun;49(6):346-353. PMID: 32712631
Blom EF, Gunning MN, Kleinrensink NJ, Lokin AS, Bruijnzeel H, Smit AL, Grolman W
JAMA Otolaryngol Head Neck Surg 2015 Nov;141(11):974-82. doi: 10.1001/jamaoto.2015.2269. PMID: 26502037

Diagnosis

Burkett BJ, Oien MP, Benson JC, Nassiri AM, Carlson ML, Lane JI
Clin Neuroradiol 2023 Sep;33(3):645-651. Epub 2023 Jan 2 doi: 10.1007/s00062-022-01251-1. PMID: 36593357
Nassiri AM, Benson JC, Doerfer KW, Perkins EL, Sweeney AD, Patel NS, Babu SC, Rivas A, Lane JI, Carlson ML
Am J Otolaryngol 2021 Nov-Dec;42(6):103144. Epub 2021 Jun 18 doi: 10.1016/j.amjoto.2021.103144. PMID: 34171699
Khoo HW, Choong CC, Yeo SB, Goh JP, Tan TY
Ann Acad Med Singap 2020 Jun;49(6):346-353. PMID: 32712631
Dhooge I, Lemmerling M, Lagache M, Standaert L, Govaert P, Mortier G
Ann Otol Rhinol Laryngol 1998 Nov;107(11 Pt 1):935-41. doi: 10.1177/000348949810701106. PMID: 9823842
Moon CN Jr, Hahn MJ
Laryngoscope 1981 Aug;91(8):1298-307. doi: 10.1288/00005537-198108000-00012. PMID: 6790887

Therapy

Riga M, Korres G, Tramontani O
Eur Ann Otorhinolaryngol Head Neck Dis 2023 May;140(3):107-114. Epub 2022 Sep 8 doi: 10.1016/j.anorl.2022.07.006. PMID: 36088240
Stevens SM, Walters ZA, Tawfik K, Samy RN
Ann Otol Rhinol Laryngol 2018 Jan;127(1):59-63. Epub 2017 Nov 21 doi: 10.1177/0003489417742921. PMID: 29160090
Vincent R, Rovers M, Mistry N, Oates J, Sperling N, Grolman W
Otol Neurotol 2011 Jun;32(4):616-25. doi: 10.1097/MAO.0b013e318216777f. PMID: 21765387

Prognosis

Castro Sousa A, Henriques V, Rodrigues J, Fonseca R
Acta Otorrinolaringol Esp (Engl Ed) 2017 May-Jun;68(3):131-137. Epub 2016 Sep 20 doi: 10.1016/j.otorri.2016.06.006. PMID: 27663221
Blom EF, Gunning MN, Kleinrensink NJ, Lokin AS, Bruijnzeel H, Smit AL, Grolman W
JAMA Otolaryngol Head Neck Surg 2015 Nov;141(11):974-82. doi: 10.1001/jamaoto.2015.2269. PMID: 26502037
Goldsztein H, Roberson JB Jr
Otolaryngol Head Neck Surg 2013 Apr;148(4):648-52. Epub 2013 Jan 14 doi: 10.1177/0194599812473430. PMID: 23319371
Kisilevsky V, Bailie NA, Dutt SN, Safar A, Halik JJ
J Otolaryngol Head Neck Surg 2009 Dec;38(6):595-602. PMID: 19958720
Nager GT, Proctor B
Otolaryngol Clin North Am 1991 Jun;24(3):531-53. PMID: 1762775

Clinical prediction guides

Plichta L, Dabkowska A, Wawszczyk-Frohlich S, Skarzynski H, Henryk Skarzynski P
J Int Adv Otol 2022 Sep;18(5):411-414. doi: 10.5152/iao.2022.21369. PMID: 36063097Free PMC Article
Nassiri AM, Benson JC, Doerfer KW, Perkins EL, Sweeney AD, Patel NS, Babu SC, Rivas A, Lane JI, Carlson ML
Am J Otolaryngol 2021 Nov-Dec;42(6):103144. Epub 2021 Jun 18 doi: 10.1016/j.amjoto.2021.103144. PMID: 34171699
Blom EF, Gunning MN, Kleinrensink NJ, Lokin AS, Bruijnzeel H, Smit AL, Grolman W
JAMA Otolaryngol Head Neck Surg 2015 Nov;141(11):974-82. doi: 10.1001/jamaoto.2015.2269. PMID: 26502037
Nager GT, Proctor B
Otolaryngol Clin North Am 1991 Jun;24(3):531-53. PMID: 1762775
Moon CN Jr, Hahn MJ
Laryngoscope 1981 Aug;91(8):1298-307. doi: 10.1288/00005537-198108000-00012. PMID: 6790887

Recent systematic reviews

Blom EF, Gunning MN, Kleinrensink NJ, Lokin AS, Bruijnzeel H, Smit AL, Grolman W
JAMA Otolaryngol Head Neck Surg 2015 Nov;141(11):974-82. doi: 10.1001/jamaoto.2015.2269. PMID: 26502037

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