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Abnormal parotid gland morphology

MedGen UID:
871384
Concept ID:
C4025880
Anatomical Abnormality
Synonym: Abnormality of parotid gland
 
HPO: HP:0000197

Definition

Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. [from HPO]

Conditions with this feature

Treacher Collins syndrome
MedGen UID:
66078
Concept ID:
C0242387
Disease or Syndrome
Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.

Professional guidelines

PubMed

Jonsson MV, Baldini C
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Cox SE
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Richter GT, Braswell L
Facial Plast Surg 2012 Dec;28(6):603-10. Epub 2012 Nov 27 doi: 10.1055/s-0032-1329935. PMID: 23188688

Recent clinical studies

Etiology

Taji SS, Savage N, Holcombe T, Khan F, Seow WK
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Miller RS, Jahrsdoerfer RA, Hashisaki GT, Kesser BW
Otol Neurotol 2006 Feb;27(2):189-92. doi: 10.1097/01.mao.0000185274.45507.2d. PMID: 16436988
Gabrielsen TO, Deveikis JP, Introcaso JH, Coran AG
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Russ JE, Scanlon EF, Sener SF
Cancer 1979 Mar;43(3):1078-83. doi: 10.1002/1097-0142(197903)43:3<1078::aid-cncr2820430344>3.0.co;2-r. PMID: 154967

Diagnosis

Hasan Z, Tan D, Buchanan M, Palme C, Riffat F
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Sun G, Hu Q, Tang E, Yang X, Huang X
J Oral Maxillofac Surg 2009 Jul;67(7):1520-3. doi: 10.1016/j.joms.2008.12.029. PMID: 19531428
Silvers AR, Som PM
Radiol Clin North Am 1998 Sep;36(5):941-66, vi. doi: 10.1016/s0033-8389(05)70070-1. PMID: 9747195

Therapy

Kalinsky K, Hong F, McCourt CK, Sachdev JC, Mitchell EP, Zwiebel JA, Doyle LA, McShane LM, Li S, Gray RJ, Rubinstein LV, Patton D, Williams PM, Hamilton SR, Conley BA, O'Dwyer PJ, Harris LN, Arteaga CL, Chen AP, Flaherty KT
JAMA Oncol 2021 Feb 1;7(2):271-278. doi: 10.1001/jamaoncol.2020.6741. PMID: 33377972Free PMC Article
Prabhu R, Mandel L
J Oral Maxillofac Surg 2017 Jan;75(1):149-152. Epub 2016 Jul 22 doi: 10.1016/j.joms.2016.06.193. PMID: 27528104
Taji SS, Savage N, Holcombe T, Khan F, Seow WK
Pediatr Dent 2011 Mar-Apr;33(2):113-8. PMID: 21703060
Yuri T, Yamazaki F, Takasu K, Shikata N, Tsubura A
Pathol Int 2008 Jun;58(6):390-5. doi: 10.1111/j.1440-1827.2008.02241.x. PMID: 18477219
Russ JE, Scanlon EF, Sener SF
Cancer 1979 Mar;43(3):1078-83. doi: 10.1002/1097-0142(197903)43:3<1078::aid-cncr2820430344>3.0.co;2-r. PMID: 154967

Prognosis

Ash S, Yaniv I, Feinmesser R, Konen O, Feinmesser M
J Pediatr Hematol Oncol 2018 Mar;40(2):99-103. doi: 10.1097/MPH.0000000000000994. PMID: 29240035
Geller RL, Hookim K, Sullivan HC, Stuart LN, Edgar MA, Reid MD
Cancer Cytopathol 2016 Sep;124(9):659-68. Epub 2016 Apr 18 doi: 10.1002/cncy.21726. PMID: 27088896
Saha A, Dandekar S, Milla S, Roman E, Bhatla T
J Pediatr Hematol Oncol 2014 Apr;36(3):246-8. doi: 10.1097/MPH.0000000000000076. PMID: 24309613
Yuri T, Yamazaki F, Takasu K, Shikata N, Tsubura A
Pathol Int 2008 Jun;58(6):390-5. doi: 10.1111/j.1440-1827.2008.02241.x. PMID: 18477219
Gabrielsen TO, Deveikis JP, Introcaso JH, Coran AG
AJNR Am J Neuroradiol 1994 Apr;15(4):653-7. PMID: 8010265Free PMC Article

Clinical prediction guides

Pei Y, Li W
Sci Rep 2023 Mar 20;13(1):4543. doi: 10.1038/s41598-023-29714-6. PMID: 36941273Free PMC Article
Maldonado JO, Beach ME, Wang Y, Perez P, Yin H, Pelayo E, Fowler S, Alevizos I, Grisius M, Baer AN, Walitt B, De Giorgi V, Alter HJ, Warner BM, Chiorini JA
J Dent Res 2022 May;101(5):534-541. Epub 2022 Jan 20 doi: 10.1177/00220345211049395. PMID: 35045743Free PMC Article
Miller RS, Jahrsdoerfer RA, Hashisaki GT, Kesser BW
Otol Neurotol 2006 Feb;27(2):189-92. doi: 10.1097/01.mao.0000185274.45507.2d. PMID: 16436988
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Wiedemann HR
Am J Med Genet 1997 Jan 20;68(2):222-4. doi: 10.1002/(sici)1096-8628(19970120)68:2<222::aid-ajmg20>3.0.co;2-v. PMID: 9028463

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