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Ossicular malformations, familial

MedGen UID:
371652
•Concept ID:
C1833790
•
Disease or Syndrome
Synonym: Familial middle ear ossicular anomalies
 
Monarch Initiative: MONDO:0008141
OMIM®: 165680

Clinical features

From HPO
Abnormality of the middle ear ossicles
MedGen UID:
324579
•Concept ID:
C1836678
•
Finding
An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
See: Feature record | Search on this feature
Congenital conductive hearing impairment
MedGen UID:
867179
•Concept ID:
C4021537
•
Congenital Abnormality
A type of conductive deafness with congenital onset.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Endoscopic Ossiculoplasty for the Management of Isolated Congenital Ossicular Chain Malformation: Surgical Results in 16 Ears.
Zhang C, Mi J, Long D, Deng Y, Sun Q, Liu Z
Ear Nose Throat J 2021 Sep;100(8):585-592. Epub 2020 Jun 4 doi: 10.1177/0145561320931218. PMID: 32495647
Congenital stapes ankylosis associated with another ossicular chain anomaly: surgical results in 30 ears.
Thomeer HG, Kunst HP, Cremers CW
Arch Otolaryngol Head Neck Surg 2011 Sep;137(9):935-41. doi: 10.1001/archoto.2011.137. PMID: 21930985
Fallopian canal stapedotomy in congenital stapes fixation with aberrant facial nerve.
Visvanathan A, Rinaldi V, Visvanathan PG
Ann Otol Rhinol Laryngol 2011 Jun;120(6):377-80. doi: 10.1177/000348941112000605. PMID: 21774444

Diagnosis

Endoscopic Ossiculoplasty for the Management of Isolated Congenital Ossicular Chain Malformation: Surgical Results in 16 Ears.
Zhang C, Mi J, Long D, Deng Y, Sun Q, Liu Z
Ear Nose Throat J 2021 Sep;100(8):585-592. Epub 2020 Jun 4 doi: 10.1177/0145561320931218. PMID: 32495647
Middle ear malformations in identical twins.
Kidowaki N, Kamitani T, Nakamura T, Taki M, Sakaguchi H, Suzuki T, Hisa Y
Auris Nasus Larynx 2014 Jun;41(3):317-20. Epub 2013 Dec 17 doi: 10.1016/j.anl.2013.10.016. PMID: 24355584
Congenital stapes ankylosis associated with another ossicular chain anomaly: surgical results in 30 ears.
Thomeer HG, Kunst HP, Cremers CW
Arch Otolaryngol Head Neck Surg 2011 Sep;137(9):935-41. doi: 10.1001/archoto.2011.137. PMID: 21930985
Fallopian canal stapedotomy in congenital stapes fixation with aberrant facial nerve.
Visvanathan A, Rinaldi V, Visvanathan PG
Ann Otol Rhinol Laryngol 2011 Jun;120(6):377-80. doi: 10.1177/000348941112000605. PMID: 21774444

Prognosis

Congenital stapes ankylosis associated with another ossicular chain anomaly: surgical results in 30 ears.
Thomeer HG, Kunst HP, Cremers CW
Arch Otolaryngol Head Neck Surg 2011 Sep;137(9):935-41. doi: 10.1001/archoto.2011.137. PMID: 21930985
Fallopian canal stapedotomy in congenital stapes fixation with aberrant facial nerve.
Visvanathan A, Rinaldi V, Visvanathan PG
Ann Otol Rhinol Laryngol 2011 Jun;120(6):377-80. doi: 10.1177/000348941112000605. PMID: 21774444

Clinical prediction guides

Endoscopic Ossiculoplasty for the Management of Isolated Congenital Ossicular Chain Malformation: Surgical Results in 16 Ears.
Zhang C, Mi J, Long D, Deng Y, Sun Q, Liu Z
Ear Nose Throat J 2021 Sep;100(8):585-592. Epub 2020 Jun 4 doi: 10.1177/0145561320931218. PMID: 32495647
Congenital stapes ankylosis associated with another ossicular chain anomaly: surgical results in 30 ears.
Thomeer HG, Kunst HP, Cremers CW
Arch Otolaryngol Head Neck Surg 2011 Sep;137(9):935-41. doi: 10.1001/archoto.2011.137. PMID: 21930985

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