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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.

Professional guidelines

PubMed

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
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
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

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
Fons K, Jnah AJ
Neonatal Netw 2021 Aug 1;40(5):313-320. doi: 10.1891/11-T-704. PMID: 34518383
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
Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
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

Fons K, Jnah AJ
Neonatal Netw 2021 Aug 1;40(5):313-320. doi: 10.1891/11-T-704. PMID: 34518383
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
Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
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
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

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
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
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
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
Shapiro RS
Laryngoscope 1982 Feb;92(2):135-9. doi: 10.1002/lary.1982.92.2.135. PMID: 7162308

Prognosis

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
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
Köbel M, Kang EY
Int J Gynecol Pathol 2021 Jan;40(1):32-40. doi: 10.1097/PGP.0000000000000725. PMID: 33290354
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
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

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
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
Köbel M, Kang EY
Int J Gynecol Pathol 2021 Jan;40(1):32-40. doi: 10.1097/PGP.0000000000000725. PMID: 33290354
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
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

Vencio RCC, Lino-Filho AM, Bonfim RCF, Pereira NM, Franco CL, Ribeiro PRJ, Morais BA
Childs Nerv Syst 2024 Jul;40(7):2093-2100. Epub 2024 Mar 27 doi: 10.1007/s00381-024-06368-x. PMID: 38536450
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
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
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
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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