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Absent stapes

MedGen UID:
488923
Concept ID:
C0576909
Finding
Synonym: Stapes absent
SNOMED CT: Stapes absent (300178009)
 
HPO: HP:0011456

Definition

Aplasia of the stapes. [from HPO]

Term Hierarchy

Conditions with this feature

Mullegama-Klein-Martinez syndrome
MedGen UID:
1683985
Concept ID:
C5193008
Disease or Syndrome
Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities. Females are generally affected more severely than males (Mullegama et al., 2019).

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

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
Yung M, Vowler SL
Otol Neurotol 2006 Sep;27(6):874-81. doi: 10.1097/01.mao.0000226305.43951.13. PMID: 16788423
Kim HH, Battista RA, Kumar A, Wiet RJ
Laryngoscope 2006 Jan;116(1):47-51. doi: 10.1097/01.mlg.0000185601.98903.34. PMID: 16481808
Rombout J, Holm AF, Pauw KH
Clin Otolaryngol Allied Sci 2000 Aug;25(4):280-6. doi: 10.1046/j.1365-2273.2000.00366.x. PMID: 10971534

Diagnosis

Khoo HW, Choong CC, Yeo SB, Goh JP, Tan TY
Ann Acad Med Singap 2020 Jun;49(6):346-353. PMID: 32712631
Monini S, Filippi C, Atturo F, Barbara M
Otol Neurotol 2013 Sep;34(7):1329-35. doi: 10.1097/MAO.0b013e3182953100. PMID: 23867342
Yung M, Vowler SL
Otol Neurotol 2006 Sep;27(6):874-81. doi: 10.1097/01.mao.0000226305.43951.13. PMID: 16788423
Kim HH, Battista RA, Kumar A, Wiet RJ
Laryngoscope 2006 Jan;116(1):47-51. doi: 10.1097/01.mlg.0000185601.98903.34. PMID: 16481808
Zeifer B, Sabini P, Sonne J
AJNR Am J Neuroradiol 2000 Feb;21(2):322-7. PMID: 10696017Free PMC Article

Prognosis

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
Monini S, Filippi C, Atturo F, Barbara M
Otol Neurotol 2013 Sep;34(7):1329-35. doi: 10.1097/MAO.0b013e3182953100. PMID: 23867342
Yung M, Vowler SL
Otol Neurotol 2006 Sep;27(6):874-81. doi: 10.1097/01.mao.0000226305.43951.13. PMID: 16788423
Kim HH, Battista RA, Kumar A, Wiet RJ
Laryngoscope 2006 Jan;116(1):47-51. doi: 10.1097/01.mlg.0000185601.98903.34. PMID: 16481808

Clinical prediction guides

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
Monini S, Filippi C, Atturo F, Barbara M
Otol Neurotol 2013 Sep;34(7):1329-35. doi: 10.1097/MAO.0b013e3182953100. PMID: 23867342
Yung M, Vowler SL
Otol Neurotol 2006 Sep;27(6):874-81. doi: 10.1097/01.mao.0000226305.43951.13. PMID: 16788423

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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