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Laryngotracheal stenosis

MedGen UID:
812610
Concept ID:
C3806280
Finding; Pathologic Function
HPO: HP:0004894

Term Hierarchy

Conditions with this feature

Diastrophic dysplasia
MedGen UID:
113103
Concept ID:
C0220726
Disease or Syndrome
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.
Myhre syndrome
MedGen UID:
167103
Concept ID:
C0796081
Disease or Syndrome
Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild-to-moderate intellectual disability, and in some instances, autistic-like behaviors. Organ systems primarily involved include: cardiovascular (congenital heart defects, long- and short-segment stenosis of the aorta and peripheral arteries, pericardial effusion, constrictive pericarditis, restrictive cardiomyopathy, and hypertension); respiratory (choanal stenosis, laryngotracheal narrowing, obstructive airway disease, or restrictive pulmonary disease), gastrointestinal (pyloric stenosis, duodenal strictures, severe constipation); and skin (thickened particularly on the hands and extensor surfaces). Additional findings include distinctive craniofacial features and skeletal involvement (intrauterine growth restriction, short stature, limited joint range of motion). To date, 55 individuals with molecularly confirmed Myhre syndrome have been reported.
Geleophysic dysplasia 1
MedGen UID:
479777
Concept ID:
C3278147
Disease or Syndrome
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.
Immunoskeletal dysplasia with neurodevelopmental abnormalities
MedGen UID:
1381460
Concept ID:
C4479452
Disease or Syndrome

Professional guidelines

PubMed

Smith MM, Cotton RT
Expert Rev Respir Med 2018 Aug;12(8):709-717. Epub 2018 Jul 12 doi: 10.1080/17476348.2018.1495564. PMID: 29969925
Donahoe L, Keshavjee S
Thorac Surg Clin 2018 May;28(2):167-175. doi: 10.1016/j.thorsurg.2018.01.011. PMID: 29627051
Rosow DE, Barbarite E
Curr Opin Otolaryngol Head Neck Surg 2016 Dec;24(6):489-493. doi: 10.1097/MOO.0000000000000305. PMID: 27585080

Recent clinical studies

Etiology

Smith MM, Cotton RT
Expert Rev Respir Med 2018 Aug;12(8):709-717. Epub 2018 Jul 12 doi: 10.1080/17476348.2018.1495564. PMID: 29969925
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Rosow DE, Barbarite E
Curr Opin Otolaryngol Head Neck Surg 2016 Dec;24(6):489-493. doi: 10.1097/MOO.0000000000000305. PMID: 27585080
Pacheco-Lopez PC, Berkow LC, Hillel AT, Akst LM
Respir Care 2014 Jun;59(6):1006-19; discussion 1019-21. doi: 10.4187/respcare.02884. PMID: 24891204
Le Goff C, Michot C, Cormier-Daire V
Clin Genet 2014 Jun;85(6):503-13. Epub 2014 Apr 2 doi: 10.1111/cge.12365. PMID: 24580733

Diagnosis

Smith MM, Buck LS
Expert Rev Respir Med 2022 Oct;16(10):1035-1041. Epub 2022 Nov 18 doi: 10.1080/17476348.2022.2145947. PMID: 36347385
Smith MM, Cotton RT
Expert Rev Respir Med 2018 Aug;12(8):709-717. Epub 2018 Jul 12 doi: 10.1080/17476348.2018.1495564. PMID: 29969925
Monnier P
Thorac Surg Clin 2018 May;28(2):177-187. doi: 10.1016/j.thorsurg.2018.01.012. PMID: 29627052
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Mathisen DJ, Grillo H
Ann Thorac Surg 1987 Mar;43(3):254-62. doi: 10.1016/s0003-4975(10)60608-x. PMID: 3548613

Therapy

Cote CL, Melong J, Tremblay P, Fagan A, Cooper M, Mullins G, Vician M, Brown T, Herman CR
J Card Surg 2021 Dec;36(12):4597-4603. Epub 2021 Oct 13 doi: 10.1111/jocs.16066. PMID: 34647349
Lewis S, Earley M, Rosenfeld R, Silverman J
Laryngoscope 2017 Jan;127(1):191-198. Epub 2016 Oct 21 doi: 10.1002/lary.26151. PMID: 27767216
Rosow DE, Barbarite E
Curr Opin Otolaryngol Head Neck Surg 2016 Dec;24(6):489-493. doi: 10.1097/MOO.0000000000000305. PMID: 27585080
Pacheco-Lopez PC, Berkow LC, Hillel AT, Akst LM
Respir Care 2014 Jun;59(6):1006-19; discussion 1019-21. doi: 10.4187/respcare.02884. PMID: 24891204
Cotton RT
J Pediatr Surg 1984 Dec;19(6):699-704. doi: 10.1016/s0022-3468(84)80355-3. PMID: 6520674

Prognosis

Alshareef W, Almutairi N, Sindi A, Almakoshi L, Zakzouk A, Aljasser A, Alammar A
Eur Arch Otorhinolaryngol 2023 Nov;280(11):4783-4792. Epub 2023 Jul 31 doi: 10.1007/s00405-023-08159-7. PMID: 37522909
Monnier P
Thorac Surg Clin 2018 May;28(2):177-187. doi: 10.1016/j.thorsurg.2018.01.012. PMID: 29627052
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Rich JT, Goldstein D, Haerle SK, Busato GM, Gullane PJ, Gilbert RW
Head Neck 2016 Feb;38(2):253-9. Epub 2015 Jun 20 doi: 10.1002/hed.23887. PMID: 25270792
Le Goff C, Michot C, Cormier-Daire V
Clin Genet 2014 Jun;85(6):503-13. Epub 2014 Apr 2 doi: 10.1111/cge.12365. PMID: 24580733

Clinical prediction guides

Alshareef W, Almutairi N, Sindi A, Almakoshi L, Zakzouk A, Aljasser A, Alammar A
Eur Arch Otorhinolaryngol 2023 Nov;280(11):4783-4792. Epub 2023 Jul 31 doi: 10.1007/s00405-023-08159-7. PMID: 37522909
Hillel AT, Tang SS, Carlos C, Skarlupka JH, Gowda M, Yin LX, Motz K, Currie CR, Suen G, Thibeault SL
mSphere 2019 May 1;4(3) doi: 10.1128/mSphereDirect.00211-19. PMID: 31043518Free PMC Article
Monnier P
Thorac Surg Clin 2018 May;28(2):177-187. doi: 10.1016/j.thorsurg.2018.01.012. PMID: 29627052
Gallagher TQ, Hartnick CJ
Adv Otorhinolaryngol 2012;73:50-7. Epub 2012 Mar 29 doi: 10.1159/000334299. PMID: 22472228
Mathisen DJ, Grillo H
Ann Thorac Surg 1987 Mar;43(3):254-62. doi: 10.1016/s0003-4975(10)60608-x. PMID: 3548613

Recent systematic reviews

Alshareef W, Almutairi N, Sindi A, Almakoshi L, Zakzouk A, Aljasser A, Alammar A
Eur Arch Otorhinolaryngol 2023 Nov;280(11):4783-4792. Epub 2023 Jul 31 doi: 10.1007/s00405-023-08159-7. PMID: 37522909
Curry SD, Rowan PJ
Otolaryngol Head Neck Surg 2020 Feb;162(2):160-167. Epub 2019 Nov 26 doi: 10.1177/0194599819889690. PMID: 31766966
Jakobsen KK, Grønhøj C, Jensen DH, Fischer-Nielsen A, Hjuler T, von Buchwald C
PLoS One 2017;12(9):e0185283. Epub 2017 Sep 21 doi: 10.1371/journal.pone.0185283. PMID: 28934345Free PMC Article
Lewis S, Earley M, Rosenfeld R, Silverman J
Laryngoscope 2017 Jan;127(1):191-198. Epub 2016 Oct 21 doi: 10.1002/lary.26151. PMID: 27767216
Chueng K, Chadha NK
Int J Pediatr Otorhinolaryngol 2013 May;77(5):623-8. Epub 2013 Feb 28 doi: 10.1016/j.ijporl.2013.02.003. PMID: 23453794

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