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Hypoplasia of the premaxilla

MedGen UID:
866508
Concept ID:
C4020770
Finding
Synonyms: Decreased size of premaxilla; Decreased size of the primary palate bone; Hypoplasia of the intermaxillary bone; Hypoplasia of the primary palate bone; Premaxillary bone deficiency; Premaxillary bone retrusion; Premaxillary retrusion; Premaxillary underdevelopment; Primary palate bone deficiency; Primary palate bone retrusion; Small premaxilla; Small primary palate bone; Underdevelopment of premaxilla; Underdevelopment of the premaxilla; Underdevelopment of the primary palate bone
 
HPO: HP:0010650

Definition

An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hypoplasia of the premaxilla

Conditions with this feature

Holoprosencephaly 9
MedGen UID:
324369
Concept ID:
C1835819
Disease or Syndrome
Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Holoprosencephaly 7
MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Professional guidelines

PubMed

Fariña R, Lolas J, Moreno E, Alister JP, Uribe MF, Pantoja R, Valladares S, Arrué C
J Craniofac Surg 2022 Mar-Apr 01;33(2):496-501. doi: 10.1097/SCS.0000000000007973. PMID: 34261964
Morris L
Curr Opin Otolaryngol Head Neck Surg 2019 Aug;27(4):302-309. doi: 10.1097/MOO.0000000000000558. PMID: 31219831
Bittermann GK, de Ruiter AP, Janssen NG, Bittermann AJ, van der Molen AM, van Es RJ, Rosenberg AJ, Koole R
Clin Oral Investig 2016 Mar;20(2):207-17. Epub 2015 Sep 16 doi: 10.1007/s00784-015-1589-y. PMID: 26374747Free PMC Article

Recent clinical studies

Etiology

Fariña R, Lolas J, Moreno E, Alister JP, Uribe MF, Pantoja R, Valladares S, Arrué C
J Craniofac Surg 2022 Mar-Apr 01;33(2):496-501. doi: 10.1097/SCS.0000000000007973. PMID: 34261964
Savoldi F, Massetti F, Tsoi JKH, Matinlinna JP, Yeung AWK, Tanaka R, Paganelli C, Bornstein MM
Angle Orthod 2021 Jan 1;91(1):88-97. doi: 10.2319/020520-82.1. PMID: 33289836Free PMC Article
Chauhan JS, Sharma S
J Craniomaxillofac Surg 2019 Dec;47(12):1881-1886. Epub 2019 Nov 28 doi: 10.1016/j.jcms.2019.11.015. PMID: 31812313
Galiè M, Clauser LC, Tieghi R, Kawamoto HK, Wolfe SA, Bianchi AE
J Craniomaxillofac Surg 2019 Sep;47(9):1410-1413. Epub 2018 Dec 27 doi: 10.1016/j.jcms.2018.12.013. PMID: 31420283
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Diagnosis

Wang YL, Chu KY, Hsieh TF, Yao CJ, Lin CH, Lee ZH, Wang SK
J Am Dent Assoc 2024 Jun;155(6):484-495.e21. Epub 2024 May 6 doi: 10.1016/j.adaj.2024.02.010. PMID: 38713117
Nicol P, Elmaleh-Bergès M, Sadoine J, Slimani L, Vacher C
Surg Radiol Anat 2020 Sep;42(9):1057-1062. Epub 2020 Jun 20 doi: 10.1007/s00276-020-02521-8. PMID: 32564109
Trevizan M, Consolaro A
Dental Press J Orthod 2017 Mar-Apr;22(2):21-26. doi: 10.1590/2177-6709.22.2.021-026.oin. PMID: 28658352Free PMC Article
Koh KS, Han WY, Jeong WS, Oh TS, Kwon SM, Choi JW
J Craniofac Surg 2016 Sep;27(6):1440-4. doi: 10.1097/SCS.0000000000002729. PMID: 27300460
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Therapy

Bennun RD, Harfin JH
J Craniofac Surg 2018 Sep;29(6):1441-1444. doi: 10.1097/SCS.0000000000004756. PMID: 30015740
Landes CA, Laudemann K, Petruchin O, Revilla C, Seitz O, Kopp S, Ludwig B, Sader RA
Oral Surg Oral Med Oral Pathol Oral Radiol 2012 Jan;113(1):29-40. Epub 2011 Mar 31 doi: 10.1016/j.tripleo.2011.01.013. PMID: 22677689
Wei X, Senders C, Owiti GO, Liu X, Wei ZN, Dillard-Telm L, McClure HM, Hendrickx AG
Cleft Palate Craniofac J 2000 Nov;37(6):571-83. doi: 10.1597/1545-1569_2000_037_0571_toadot_2.0.co_2. PMID: 11108527
Cutting C, Grayson B, Brecht L, Santiago P, Wood R, Kwon S
Plast Reconstr Surg 1998 Mar;101(3):630-9. doi: 10.1097/00006534-199803000-00009. PMID: 9500379
Sykes JM, Toriumi D, Kerth JD
Arch Otolaryngol Head Neck Surg 1987 Jul;113(7):765-7. doi: 10.1001/archotol.1987.01860070079021. PMID: 3580160

Prognosis

Nicol P, Elmaleh-Bergès M, Sadoine J, Slimani L, Vacher C
Surg Radiol Anat 2020 Sep;42(9):1057-1062. Epub 2020 Jun 20 doi: 10.1007/s00276-020-02521-8. PMID: 32564109
Koh KS, Kim H, Oh TS, Kwon SM, Choi JW
J Plast Reconstr Aesthet Surg 2013 Sep;66(9):1212-8. Epub 2013 May 21 doi: 10.1016/j.bjps.2013.04.060. PMID: 23702194
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Geraedts CT, Borstlap WA, Groenewoud JM, Borstlap-Engels VM, Stoelinga PJ
Int J Oral Maxillofac Surg 2007 Sep;36(9):788-96. Epub 2007 Jul 6 doi: 10.1016/j.ijom.2007.04.010. PMID: 17618084
Aburezq H, Daskalogiannakis J, Forrest C
Cleft Palate Craniofac J 2006 Jan;43(1):92-5. doi: 10.1597/04-114r.1. PMID: 16405381

Clinical prediction guides

Masnada S, Gibelli D, Dolci C, De Giorgis V, Cappella A, Veggiotti P, Sforza C; Italian Aicardi Study Group
Am J Med Genet A 2020 Oct;182(10):2325-2332. Epub 2020 Aug 15 doi: 10.1002/ajmg.a.61791. PMID: 32798292
Vermeij-Keers C, Rozendaal AM, Luijsterburg AJM, Latief BS, Lekkas C, Kragt L, Ongkosuwito EM
Cleft Palate Craniofac J 2018 Oct;55(9):1267-1276. Epub 2018 Apr 13 doi: 10.1177/1055665618767106. PMID: 29652537
Koh KS, Han WY, Jeong WS, Oh TS, Kwon SM, Choi JW
J Craniofac Surg 2016 Sep;27(6):1440-4. doi: 10.1097/SCS.0000000000002729. PMID: 27300460
Barteczko K, Jacob M
Anat Embryol (Berl) 2004 Mar;207(6):417-37. Epub 2004 Feb 4 doi: 10.1007/s00429-003-0366-x. PMID: 14760532
Carstens MH
J Craniofac Surg 2002 Jan;13(1):129-87; discussion 188-90. doi: 10.1097/00001665-200201000-00032. PMID: 11887012

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