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Abnormal palate morphology

MedGen UID:
867440
•Concept ID:
C4021815
•
Finding
Synonym: Abnormality of the palate
 
HPO: HP:0000174

Definition

Any abnormality of the palate, i.e., of roof of the mouth. [from HPO]

Professional guidelines

PubMed

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
Velopharyngeal Dysfunction Evaluation and Treatment.
Meier JD, Muntz HR
Facial Plast Surg Clin North Am 2016 Nov;24(4):477-485. doi: 10.1016/j.fsc.2016.06.016. PMID: 27712815
Prenatal diagnosis.
Paek B, Goldberg JD, Albanese CT
World J Surg 2003 Jan;27(1):27-37. doi: 10.1007/s00268-002-6734-5. PMID: 12557035

Recent clinical studies

Etiology

Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
Robinson K, Mosley TJ, Rivera-González KS, Jabbarpour CR, Curtis SW, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJJ, Hecht JT, Murray JC, Shaw GM, Uribe LM, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Leslie EJ
HGG Adv 2023 Oct 12;4(4):100234. Epub 2023 Aug 25 doi: 10.1016/j.xhgg.2023.100234. PMID: 37719664Free PMC Article
Tongue-palate contact patterns for Japanese speakers with and without cleft lip and palate.
Yamamoto I
Int J Speech Lang Pathol 2020 Feb;22(1):70-77. Epub 2019 Apr 23 doi: 10.1080/17549507.2019.1593505. PMID: 31014123
Bone and soft tissue palatal morphology and potential anchorage sides in cleft palate patients.
Moscarino S, Scholz J, Bastian A, Knaup I, Wolf M
Ann Anat 2019 Jul;224:41-46. Epub 2019 Apr 3 doi: 10.1016/j.aanat.2019.02.005. PMID: 30953811
Palate size and shape in schizophrenia.
Delice M, Gurbuz O, Oflezer C, Kurt E, Mandali G
Psychiatry Res 2016 Oct 30;244:273-8. Epub 2016 Jul 16 doi: 10.1016/j.psychres.2016.05.035. PMID: 27512914
Cleft lip and palate: current status from the literature and our experience.
Manna F, Pensiero S, Clarich G, Guarneri GF, Parodi PC
J Craniofac Surg 2009 Sep;20(5):1383-7. doi: 10.1097/SCS.0b013e3181b0daa3. PMID: 19816262

Diagnosis

The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Torus Mandibularis.
Chaubal TV, Bapat R, Poonja K
Am J Med 2017 Oct;130(10):e451. Epub 2017 May 19 doi: 10.1016/j.amjmed.2017.04.026. PMID: 28528920
Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.
Wirtz N, Sidman J, Block W
Am J Perinatol 2016 May;33(6):531-4. Epub 2016 Feb 23 doi: 10.1055/s-0036-1572537. PMID: 26906186
Surgical considerations in 22Q11.2 deletion syndrome.
Kirschner RE, Baylis AL
Clin Plast Surg 2014 Apr;41(2):271-82. doi: 10.1016/j.cps.2013.12.002. PMID: 24607194
Hard palate-repair technique and facial growth in patients with cleft lip and palate: a systematic review.
Lee YH, Liao YF
Br J Oral Maxillofac Surg 2013 Dec;51(8):851-7. Epub 2013 Sep 14 doi: 10.1016/j.bjoms.2013.08.012. PMID: 24045106

Therapy

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
Orthognathic Surgery for Patients with Cleft Lip and Palate.
Roy AA, Rtshiladze MA, Stevens K, Phillips J
Clin Plast Surg 2019 Apr;46(2):157-171. Epub 2019 Feb 6 doi: 10.1016/j.cps.2018.11.002. PMID: 30851748
Dental materials for cleft palate repair.
Sharif F, Ur Rehman I, Muhammad N, MacNeil S
Mater Sci Eng C Mater Biol Appl 2016 Apr 1;61:1018-28. Epub 2015 Dec 11 doi: 10.1016/j.msec.2015.12.019. PMID: 26838929
Palatogenesis: engineering, pathways and pathologies.
Levi B, Brugman S, Wong VW, Grova M, Longaker MT, Wan DC
Organogenesis 2011 Oct-Dec;7(4):242-54. Epub 2011 Oct 1 doi: 10.4161/org.7.4.17926. PMID: 21964245Free PMC Article
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).
Agochukwu NB, Solomon BD, Doherty ES, Muenke M
J Craniofac Surg 2012 May;23(3):664-8. doi: 10.1097/SCS.0b013e31824db8bb. PMID: 22565872Free PMC Article
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Gingivoperiosteoplasty and midfacial growth.
Wood RJ, Grayson BH, Cutting CB
Cleft Palate Craniofac J 1997 Jan;34(1):17-20. doi: 10.1597/1545-1569_1997_034_0017_gamg_2.3.co_2. PMID: 9003907

Clinical prediction guides

Bone and soft tissue palatal morphology and potential anchorage sides in cleft palate patients.
Moscarino S, Scholz J, Bastian A, Knaup I, Wolf M
Ann Anat 2019 Jul;224:41-46. Epub 2019 Apr 3 doi: 10.1016/j.aanat.2019.02.005. PMID: 30953811
Periderm: Life-cycle and function during orofacial and epidermal development.
Hammond NL, Dixon J, Dixon MJ
Semin Cell Dev Biol 2019 Jul;91:75-83. Epub 2017 Aug 10 doi: 10.1016/j.semcdb.2017.08.021. PMID: 28803895
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article
Clinical observations of cleft lip and palate.
Precious DS, Delaire J
Oral Surg Oral Med Oral Pathol 1993 Feb;75(2):141-51. doi: 10.1016/0030-4220(93)90084-h. PMID: 8426712
The telecanthus-hypospadias syndrome.
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article

Recent systematic reviews

The relationship between third molar agenesis and craniofacial morphology: a systematic review and meta-analysis.
Le Y, Li M, Li F, Wu S, Zhu C, Wan Q
Eur J Orthod 2024 Jan 1;46(1) doi: 10.1093/ejo/cjad081. PMID: 38168816
Speech correcting surgery after primary palatoplasty: a systematic literature review and meta-analysis.
Hofman L, van Dongen JA, van Rees RCM, Jenniskens K, Haverkamp SJ, Beentjes YS, van der Molen ABM, Paes EC
Clin Oral Investig 2023 Dec 29;28(1):58. doi: 10.1007/s00784-023-05391-7. PMID: 38157017
Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.
Alam MK, Alfawzan AA, Srivastava KC, Shrivastava D, Ganji KK, Manay SM
Sci Rep 2022 Apr 5;12(1):5708. doi: 10.1038/s41598-022-09764-y. PMID: 35383244Free PMC Article
Craniofacial and upper airway morphology in adult obstructive sleep apnea patients: A systematic review and meta-analysis of cephalometric studies.
Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222
Dental implants in cleft lip, alveolus, and palate patients: a systematic review.
Wermker K, Jung S, Joos U, Kleinheinz J
Int J Oral Maxillofac Implants 2014 Mar-Apr;29(2):384-90. doi: 10.11607/jomi.3303. PMID: 24683564

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