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Abnormality of the tonsils

MedGen UID:
867590
•Concept ID:
C4021975
•
Anatomical Abnormality
HPO: HP:0100765

Definition

An abnormality of the tonsils. [from HPO]

Conditions with this feature

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
MedGen UID:
461506
•Concept ID:
C3150156
•
Disease or Syndrome
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.
See: Condition Record
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Professional guidelines

PubMed

Guidelines for Monitoring and Management of Pediatric Patients Before, During, and After Sedation for Diagnostic and Therapeutic Procedures.
Coté CJ, Wilson S; AMERICAN ACADEMY OF PEDIATRICS; AMERICAN ACADEMY OF PEDIATRIC DENTISTRY
Pediatrics 2019 Jun;143(6) doi: 10.1542/peds.2019-1000. PMID: 31138666
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Clinical Practice Guideline: Tonsillectomy in Children (Update).
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778

Recent clinical studies

Etiology

The impact of mouth breathing on dentofacial development: A concise review.
Lin L, Zhao T, Qin D, Hua F, He H
Front Public Health 2022;10:929165. Epub 2022 Sep 8 doi: 10.3389/fpubh.2022.929165. PMID: 36159237Free PMC Article
Arnold-Chiari Malformation: Core Concepts.
Fons K, Jnah AJ
Neonatal Netw 2021 Aug 1;40(5):313-320. doi: 10.1891/11-T-704. PMID: 34518383
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Chiari Malformations.
Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
How do we recognize the child with OSAS?
Joosten KF, Larramona H, Miano S, Van Waardenburg D, Kaditis AG, Vandenbussche N, Ersu R
Pediatr Pulmonol 2017 Feb;52(2):260-271. Epub 2016 Nov 16 doi: 10.1002/ppul.23639. PMID: 27865065

Diagnosis

Arnold-Chiari Malformation: Core Concepts.
Fons K, Jnah AJ
Neonatal Netw 2021 Aug 1;40(5):313-320. doi: 10.1891/11-T-704. PMID: 34518383
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Chiari Malformations.
Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
How do we recognize the child with OSAS?
Joosten KF, Larramona H, Miano S, Van Waardenburg D, Kaditis AG, Vandenbussche N, Ersu R
Pediatr Pulmonol 2017 Feb;52(2):260-271. Epub 2016 Nov 16 doi: 10.1002/ppul.23639. PMID: 27865065

Therapy

Guidelines for Monitoring and Management of Pediatric Patients Before, During, and After Sedation for Diagnostic and Therapeutic Procedures.
Coté CJ, Wilson S; AMERICAN ACADEMY OF PEDIATRICS; AMERICAN ACADEMY OF PEDIATRIC DENTISTRY
Pediatrics 2019 Jun;143(6) doi: 10.1542/peds.2019-1000. PMID: 31138666
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Clinical Practice Guideline: Tonsillectomy in Children (Update).
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Partial adenoidectomy.
Shapiro RS
Laryngoscope 1982 Feb;92(2):135-9. doi: 10.1002/lary.1982.92.2.135. PMID: 7162308

Prognosis

Human genetics and molecular genomics of Chiari malformation type 1.
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT
Trends Mol Med 2023 Dec;29(12):1059-1075. Epub 2023 Oct 4 doi: 10.1016/j.molmed.2023.08.013. PMID: 37802664
Central positional nystagmus: an update.
Lemos J, Strupp M
J Neurol 2022 Apr;269(4):1851-1860. Epub 2021 Oct 20 doi: 10.1007/s00415-021-10852-8. PMID: 34669008
The Many Uses of p53 Immunohistochemistry in Gynecological Pathology: Proceedings of the ISGyP Companion Society Session at the 2020 USCAP Annual9 Meeting.
Köbel M, Kang EY
Int J Gynecol Pathol 2021 Jan;40(1):32-40. doi: 10.1097/PGP.0000000000000725. PMID: 33290354
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Global burden of human papillomavirus and related diseases.
Forman D, de Martel C, Lacey CJ, Soerjomataram I, Lortet-Tieulent J, Bruni L, Vignat J, Ferlay J, Bray F, Plummer M, Franceschi S
Vaccine 2012 Nov 20;30 Suppl 5:F12-23. doi: 10.1016/j.vaccine.2012.07.055. PMID: 23199955

Clinical prediction guides

Human genetics and molecular genomics of Chiari malformation type 1.
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT
Trends Mol Med 2023 Dec;29(12):1059-1075. Epub 2023 Oct 4 doi: 10.1016/j.molmed.2023.08.013. PMID: 37802664
Central positional nystagmus: an update.
Lemos J, Strupp M
J Neurol 2022 Apr;269(4):1851-1860. Epub 2021 Oct 20 doi: 10.1007/s00415-021-10852-8. PMID: 34669008
The Many Uses of p53 Immunohistochemistry in Gynecological Pathology: Proceedings of the ISGyP Companion Society Session at the 2020 USCAP Annual9 Meeting.
Köbel M, Kang EY
Int J Gynecol Pathol 2021 Jan;40(1):32-40. doi: 10.1097/PGP.0000000000000725. PMID: 33290354
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Pathogenesis and Cerebrospinal Fluid Hydrodynamics of the Chiari I Malformation.
Buell TJ, Heiss JD, Oldfield EH
Neurosurg Clin N Am 2015 Oct;26(4):495-9. Epub 2015 Aug 4 doi: 10.1016/j.nec.2015.06.003. PMID: 26408057Free PMC Article

Recent systematic reviews

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for Patients With Chiari Malformation: Symptoms.
Jackson EM, Jernigan S, Raskin JS, Ackerman LL, Infinger LK, Maher CO, Niazi T, Pattisapu JV, Qaiser R, Quinsey C, Rocque BG, Silberstein H, Vachhrajani S, Bauer DF
Neurosurgery 2023 Oct 1;93(4):727-730. Epub 2023 Aug 30 doi: 10.1227/neu.0000000000002634. PMID: 37646519
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for Patients With Chiari Malformation: Diagnosis.
Bauer DF, Niazi T, Qaiser R, Infinger LK, Vachhrajani S, Ackerman LL, Jackson EM, Jernigan S, Maher CO, Pattisapu JV, Quinsey C, Raskin JS, Rocque BG, Silberstein H
Neurosurgery 2023 Oct 1;93(4):723-726. Epub 2023 Aug 30 doi: 10.1227/neu.0000000000002633. PMID: 37646512
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for Patients With Chiari Malformation: Surgical Interventions.
Pattisapu JV, Ackerman LL, Infinger LK, Maher CO, Quinsey C, Rocque BG, Silberstein H, Jackson EM, Jernigan S, Niazi T, Qaiser R, Raskin JS, Vachhrajani S, Bauer DF
Neurosurgery 2023 Oct 1;93(4):731-735. Epub 2023 Aug 30 doi: 10.1227/neu.0000000000002635. PMID: 37646504
The effect of filum terminale sectioning for Chiari 1 malformation treatment: systematic review.
Milano JB, Barcelos ACES, Onishi FJ, Daniel JW, Botelho RV, Dantas FR, Neto ER, de Freitas Bertolini E, Mudo ML, Brock RS, de Oliveira RS, Joaquim AF
Neurol Sci 2020 Feb;41(2):249-256. Epub 2019 Oct 9 doi: 10.1007/s10072-019-04056-2. PMID: 31598783
A Systematic Review of Chiari I Malformation: Techniques and Outcomes.
Zhao JL, Li MH, Wang CL, Meng W
World Neurosurg 2016 Apr;88:7-14. Epub 2015 Dec 28 doi: 10.1016/j.wneu.2015.11.087. PMID: 26732952

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