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Absent malleus

MedGen UID:
488922
Concept ID:
C0576900
Finding
Synonym: Malleus absent
SNOMED CT: Malleus absent (300169003)
 
HPO: HP:0011455

Definition

Aplasia of the malleus. [from HPO]

Term Hierarchy

Conditions with this feature

Craniosynostosis and dental anomalies
MedGen UID:
481703
Concept ID:
C3280073
Disease or Syndrome
CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).

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

Vincent R, Bittermann AJ, Wenzel G, Oates J, Sperling N, Lenarz T, Grolman W
Otol Neurotol 2013 Jan;34(1):83-90. doi: 10.1097/MAO.0b013e318277a2bd. PMID: 23151778
Gluth MB, Metrailer AM, Dornhoffer JL, Moore PC
Otol Neurotol 2012 Aug;33(6):998-1001. doi: 10.1097/MAO.0b013e31825f2346. PMID: 22772015
Yung M, Vowler SL
Otol Neurotol 2006 Sep;27(6):874-81. doi: 10.1097/01.mao.0000226305.43951.13. PMID: 16788423
Vincent R, Sperling NM, Oates J, Osborne J
Otol Neurotol 2005 Sep;26(5):846-52. doi: 10.1097/01.mao.0000185068.50575.92. PMID: 16151327
Lesinski SG
Otolaryngol Clin North Am 1982 Nov;15(4):795-811. PMID: 7162819

Diagnosis

Yung M, Vowler SL
Otol Neurotol 2006 Sep;27(6):874-81. doi: 10.1097/01.mao.0000226305.43951.13. PMID: 16788423

Therapy

Babighian G, Albu S
Clin Otolaryngol 2011 Dec;36(6):543-9. doi: 10.1111/j.1749-4486.2011.02406.x. PMID: 22024022
Lesinski SG
Laryngoscope 1986 Nov;96(11):1211-20. doi: 10.1002/lary.1986.96.11.1211. PMID: 3773619

Prognosis

Yung M, Vowler SL
Otol Neurotol 2006 Sep;27(6):874-81. doi: 10.1097/01.mao.0000226305.43951.13. PMID: 16788423
Vincent R, Sperling NM, Oates J, Osborne J
Otol Neurotol 2005 Sep;26(5):846-52. doi: 10.1097/01.mao.0000185068.50575.92. PMID: 16151327
Lesinski SG
Laryngoscope 1986 Nov;96(11):1211-20. doi: 10.1002/lary.1986.96.11.1211. PMID: 3773619
Lesinski SG
Laryngoscope 1983 Nov;93(11 Pt 2 Suppl 32):1-37. doi: 10.1288/00005537-198311001-00001. PMID: 6633129
Alford BR, McFarlane JR, Neely JG
Laryngoscope 1976 Feb;86(2):199-208. doi: 10.1288/00005537-197602000-00007. PMID: 1053359

Clinical prediction guides

Yung M, Vowler SL
Otol Neurotol 2006 Sep;27(6):874-81. doi: 10.1097/01.mao.0000226305.43951.13. PMID: 16788423
Lesinski SG
Otolaryngol Clin North Am 1982 Nov;15(4):795-811. PMID: 7162819

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