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Congenital laryngeal adductor palsy(LAP)

MedGen UID:
140759
Concept ID:
C0396060
Congenital Abnormality
Synonyms: LAP; Laryngeal adductor paralysis; VOCAL CORD DYSFUNCTION, ADDUCTOR TYPE
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Congenital laryngeal adductor paralysis (232443006); Congenital laryngeal adductor palsy (232443006)
 
Cytogenetic location: 6p21.3-p21.2
OMIM®: 150270

Clinical features

Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.

Recent clinical studies

Etiology

Bathini L, Jomah M, Krajacic A, Jeffery C, Campbell S, El-Hakim H
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1866-9. Epub 2014 Aug 17 doi: 10.1016/j.ijporl.2014.08.012. PMID: 25218340
Berkowitz RG
Ann Otol Rhinol Laryngol 2003 Sep;112(9 Pt 1):764-7. doi: 10.1177/000348940311200904. PMID: 14535559
Berkowitz RG
Ann Otol Rhinol Laryngol 1996 Mar;105(3):207-12. doi: 10.1177/000348949610500306. PMID: 8615584

Diagnosis

Bathini L, Jomah M, Krajacic A, Jeffery C, Campbell S, El-Hakim H
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1866-9. Epub 2014 Aug 17 doi: 10.1016/j.ijporl.2014.08.012. PMID: 25218340
Berkowitz RG
Ann Otol Rhinol Laryngol 1996 Mar;105(3):207-12. doi: 10.1177/000348949610500306. PMID: 8615584

Therapy

Bathini L, Jomah M, Krajacic A, Jeffery C, Campbell S, El-Hakim H
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1866-9. Epub 2014 Aug 17 doi: 10.1016/j.ijporl.2014.08.012. PMID: 25218340
Irfan M, Shahid H, Baharudin A, Friedrich G
Med J Malaysia 2009 Mar;64(1):89-90. PMID: 19852333

Prognosis

Berkowitz RG
Ann Otol Rhinol Laryngol 1996 Mar;105(3):207-12. doi: 10.1177/000348949610500306. PMID: 8615584

Clinical prediction guides

Berkowitz RG
Ann Otol Rhinol Laryngol 2003 Sep;112(9 Pt 1):764-7. doi: 10.1177/000348940311200904. PMID: 14535559

Recent systematic reviews

Bathini L, Jomah M, Krajacic A, Jeffery C, Campbell S, El-Hakim H
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1866-9. Epub 2014 Aug 17 doi: 10.1016/j.ijporl.2014.08.012. PMID: 25218340

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