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Isolated congenital hypoglossia

MedGen UID:
992812
•Concept ID:
CN312539
•
Disease or Syndrome
Synonym: isolated congenital hypoglossia
 
Monarch Initiative: MONDO:0035411
Orphanet: ORPHA563954

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated congenital hypoglossia

Recent clinical studies

Etiology

Neonatal Macroglossia: Demographics, Cost of Care, and Associated Comorbidities.
Simmonds JC, Patel AK, Mildenhall NR, Mader NS, Scott AR
Cleft Palate Craniofac J 2018 Sep;55(8):1122-1129. Epub 2018 Mar 23 doi: 10.1177/1055665618760898. PMID: 29570380
Coexistence of resistance to thyroid hormone and ectopic thyroid: ten-year follow-up.
Guo ML, Zheng X, Yang LX, Qiu YL, Cheng L, Ma SG
Arch Endocrinol Metab 2016 Nov-Dec;60(6):601-604. Epub 2016 Oct 10 doi: 10.1590/2359-3997000000214. PMID: 27737329Free PMC Article
Respiratory distress in Pierre Robin sequence: an experience with mandible traction by wires.
Baciliero U, Spanio di Spilimbergo S, Riga M, Padula E
Int J Oral Maxillofac Surg 2011 May;40(5):464-70. Epub 2011 Jan 14 doi: 10.1016/j.ijom.2010.11.014. PMID: 21237615
Assessment of dysphagia in infants with facial malformations.
Baudon JJ, Renault F, Goutet JM, Biran-Mucignat V, Morgant G, Garabedian EN, Vazquez MP
Eur J Pediatr 2009 Feb;168(2):187-93. Epub 2008 May 22 doi: 10.1007/s00431-008-0729-7. PMID: 18496714
Oral mucosa lesions in Mazahua Indian adolescents.
Banderas JA, Toshikasu O, González M
Acta Odontol Latinoam 1999;12(1):11-20. PMID: 12905912

Diagnosis

Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.
Dietrich E, Grimaux X, Martin L, Samimi M
Ann Dermatol Venereol 2022 Dec;149(4):228-237. Epub 2022 Oct 11 doi: 10.1016/j.annder.2022.03.011. PMID: 36229262
Anterior "W" Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome.
Ainuz BY, Geisler EL, Hallac RR, Perez JK, Seaward JR, Kane AA
Cleft Palate Craniofac J 2022 Sep;59(9):1145-1154. Epub 2021 Aug 17 doi: 10.1177/10556656211036607. PMID: 34402311
Coexistence of resistance to thyroid hormone and ectopic thyroid: ten-year follow-up.
Guo ML, Zheng X, Yang LX, Qiu YL, Cheng L, Ma SG
Arch Endocrinol Metab 2016 Nov-Dec;60(6):601-604. Epub 2016 Oct 10 doi: 10.1590/2359-3997000000214. PMID: 27737329Free PMC Article
Situs inversus totalis and congenital hypoglossia.
Amor DJ, Craig JE
Clin Dysmorphol 2001 Jan;10(1):47-50. doi: 10.1097/00019605-200101000-00010. PMID: 11152148
US assessment of the fetal head and neck: a state-of-the-art pictorial review.
Mernagh JR, Mohide PT, Lappalainen RE, Fedoryshin JG
Radiographics 1999 Oct;19 Spec No:S229-41. doi: 10.1148/radiographics.19.suppl_1.g99oc21s229. PMID: 10517457

Therapy

Anterior "W" Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome.
Ainuz BY, Geisler EL, Hallac RR, Perez JK, Seaward JR, Kane AA
Cleft Palate Craniofac J 2022 Sep;59(9):1145-1154. Epub 2021 Aug 17 doi: 10.1177/10556656211036607. PMID: 34402311
Coexistence of resistance to thyroid hormone and ectopic thyroid: ten-year follow-up.
Guo ML, Zheng X, Yang LX, Qiu YL, Cheng L, Ma SG
Arch Endocrinol Metab 2016 Nov-Dec;60(6):601-604. Epub 2016 Oct 10 doi: 10.1590/2359-3997000000214. PMID: 27737329Free PMC Article

Prognosis

Coexistence of resistance to thyroid hormone and ectopic thyroid: ten-year follow-up.
Guo ML, Zheng X, Yang LX, Qiu YL, Cheng L, Ma SG
Arch Endocrinol Metab 2016 Nov-Dec;60(6):601-604. Epub 2016 Oct 10 doi: 10.1590/2359-3997000000214. PMID: 27737329Free PMC Article
Respiratory distress in Pierre Robin sequence: an experience with mandible traction by wires.
Baciliero U, Spanio di Spilimbergo S, Riga M, Padula E
Int J Oral Maxillofac Surg 2011 May;40(5):464-70. Epub 2011 Jan 14 doi: 10.1016/j.ijom.2010.11.014. PMID: 21237615
Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report.
Pacella E, Malvasi A, Tinelli A, Laterza F, Dell'Edera D, Pacella F, Mazzeo F, Ferraresi A, Malarska KG, Cavallotti C
Eur Rev Med Pharmacol Sci 2010 Dec;14(12):1051-4. PMID: 21375138
Autosomal dominant congenital macroglossia: further delineation of the syndrome.
Reynoso MC, Hernández A, Lizcano-Gil LA, Sarralde A, Abreu MC, Nazará Z, Fragoso R
Genet Couns 1994;5(2):151-4. PMID: 7917123

Clinical prediction guides

Anterior "W" Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome.
Ainuz BY, Geisler EL, Hallac RR, Perez JK, Seaward JR, Kane AA
Cleft Palate Craniofac J 2022 Sep;59(9):1145-1154. Epub 2021 Aug 17 doi: 10.1177/10556656211036607. PMID: 34402311
Gingival fibromatosis with hemi-osseous hyperplasia of jaws, focal maxillary viral papillomatosis of gingiva, fissured tongue and congenitally missing anterior teeth: a case report and surgical management of a new syndrome.
Reddy MS, Manyam R, Babu MN, Saraswathi TR
Indian J Dent Res 2011 May-Jun;22(3):489-92. doi: 10.4103/0970-9290.87078. PMID: 22048596
Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report.
Pacella E, Malvasi A, Tinelli A, Laterza F, Dell'Edera D, Pacella F, Mazzeo F, Ferraresi A, Malarska KG, Cavallotti C
Eur Rev Med Pharmacol Sci 2010 Dec;14(12):1051-4. PMID: 21375138
Complete and isolated congenital aglossia: case report and treatment of sequelae using rapid prototyping models.
Salles F, Anchieta M, Costa Bezerra P, Torres ML, Queiroz E, Faber J
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008 Mar;105(3):e41-7. doi: 10.1016/j.tripleo.2007.09.028. PMID: 18280945
The application of molecular genetics to detection of craniofacial abnormality.
Moore G, Ivens A, Chambers J, Bjornsson A, Arnason A, Jensson O, Williamson R
Development 1988;103 Suppl:233-9. doi: 10.1242/dev.103.Supplement.233. PMID: 3074911

Recent systematic reviews

A Rare Case of Cleft Palate Associated With Tongue Hamartoma: A Case Report and Systematic Review.
Dash S, Chauhan S, Sennimalai K, Kharbanda OP, Singhal M
Cleft Palate Craniofac J 2023 Dec;60(12):1609-1618. Epub 2022 Jul 26 doi: 10.1177/10556656221116001. PMID: 35881509
Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.
Dietrich E, Grimaux X, Martin L, Samimi M
Ann Dermatol Venereol 2022 Dec;149(4):228-237. Epub 2022 Oct 11 doi: 10.1016/j.annder.2022.03.011. PMID: 36229262

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