HYPOGLOSSIA: LITERATURE REVIEW AND TWO CASES
Introduction. Aglossia / hypoglossia is a rare condition combined with underdeveled lower jaw, lack of mandibular incisors and various degrees of limb anomalies. In domestic and foreign literature, one can find only few such observations in pediatric and adult populations. This malformation is met in the syndrome of limb and oromandibular hypogynesia or aglossia-adactylia syndrome. The incidence of aglossia / hypoglossia is very low (1 / 175,000-1 / 1,000,000 live births, ) and in most cases it is represented by hypoglosia, and not true aglossia. The isolated aglossia without limb malformations is an even more rare condition. The etiology of aglossia / hypoglosia is unknown, since all known cases are sporadic and by present moment no more than 100 observations have been published. Material and methods. In 2015, a girl (1 year 10 mon old ) and a 3- year old boy were examined in hospital and outpatiently because of complaints for the reduction of lower jaw. The children were examined by an orthodontist; additional examinations were prescribed to the girl because of revealed comorbidities. Results. The girl also had vertebrae malformation. Such a pathological combination had not been seen previously in the available literature. The second child was a boy of 3 y.o.; his parents decided to consult an orthodontist for correcting the bite. In both cases, children were well adapted, although there were some deficiencies in verbal activity and difficulties in feeding; after speech therapy and spoon-feeding trainings these problems were solved. Conclusion. Even with a significant degree of tongue underdevelopment, there are practically no functional limitations in patients with aglossia-adactyl syndrome, which is important for determining prognosis as well as for consulting patients and their parents and for making decision about the need for corrective surgery.
About the authorsKugushev Alexander Yu.
Moore K.L. Rio de Janeiro: Editora Guanabara; 1982. Embriologia Clínica. 3ª ed; p. 442. [Google Scholar]
Salles F., Anchieta M., Costa Bezerra P., Torres M.L., Queiroz E., Faber J. Complete and isolated congenital aglossia: case report and treatment of sequel e using rapid prototyping models. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008; 105: 41-7.
Kantaputra P., Tanpaiboon P. Thyroid dysfunction in a patient with aglossia. Am J Med Genet A. 2003; 122A(3): 274-7.
Felício C.M., Desenvolvimento normal das funções estomatognáticas. Tratado de fonoaudiologia 2004.s; pp. 195-211.
Rasool A., Zaroo M.I., Wani A.H., Darzi M.A., Bashir S.A., Bijli A.H., Rashid S. Isolate aglossia in a six year old child presenting with impaired speech: a case report [Internet] Cases journal; content/pdf/1757-1626-0002-0000007926 [cited 214]. Available at: http://www.casesjournal.com/content/2/1/7926
Kumar P., Chaubey K.K. Aglossia: a case report. J Indian Soc Pedod Prev Dent. 2007; 25(1): 46-8.
Dogan D.G., Dogan M., Aslan M., Menekse E., Yakinci C. Hanhart syndrome. Genet. Counsel. 2010; 21: 359-62.
Julius A. Klausstiftung Furvererbungsetng Sozialanthropologie and Rassenhygiene. Zurich 1950; 25: 531-44.
Hall B.D. Aglossia- adactylia. Birth Defects. Orig Artic Ser. 1971; 7: 233- 6.
Hanhart E. Ueber die Kombination von Peromelie mit Mikrognathie, ein neues Syndrom beim Menschen, entsprechend der Akroteriasis congenita von Wriedt und Mohr beim Rind. Arch. Klaus Stift. Vererbungsforsch. 1950; 25: 531-43.
Tuncbilek E., Yalcin C., Atasu M. Aglossia-adactylia syndrome (special emphasis on the inheritance pattern). Clin Genet. 1977 Jun; 11(6): 421-3.
Robinow M., Marsh J.L., Edgerton M.T., Sabio H., Johnson G.F. Discordance in monozygotic twins for aglossia-adactylia, and possible clues to the pathogenesis of the syndrome. Birth Defects Orig. Art. Ser. 1978; XIV(6A): 223-30.
Opitz J.M. The developmental analysis of human congenital anomalies, Prog Clin Biol Res. 1982; 104: 15-44.
Preis S., Majewski F., Hantschmann R., Schumacher H., Lenard H.G. Goldenhar, Moebius and hypoglossia-hypodactyly anomalies in a patient: Syndrome or association? Eur J Pediatr 1996; 155: 385-9
Robertson S.P., Bankier A. Oromandibular limb hypogenesis complex (Hanhart syndrome): a severe adult phenotype. (Letter) Am. J. Med. Genet. 1999; 83: 427-9.
Chandra Sekhar H.K., Sachs M., Siverls V.C. Hanhart’s syndrome with special reference to temporal bone findings. Ann. Otol. Rhinol. Laryng. 1987; 96: 309-14.
De Smet L., Schollen W. Hypoglossia-hypodactyly syndrome: report of 2 patients. Genet. Counsel. 2001; 12: 347-52.
Camera G., Ferrari G., Rossello M.I., Camera A. ‘Angel-shaped phalanx’ in a boy with oromandibular-limb hypogenesis. (Letter) Am. J. Med. Genet. 2003; 119A: 87-8.
Higashi K., Edo M. Conductive deafness in aglossia. J Laryngol Otal 1996; 110: 1057-9.
Mandai H., Kinouchi K. Perioperative management of a neonate with aglossia-adactylia syndrome. Mausi. 2001; 50: 773-5. Opitz (1982)
Kantaputra P., Tanpaiboon P. Thyroid dysfunction in a patient with aglossia. Am J Med Genet A. 2003; 122: 274-7.
Amor D.J., Craig J.E. Situs inversus totalis and congenital hypoglossia. Clin Dysmorphol. 2001; 10: 47-50.
Shokeir M.H., Short stature, absent thumbs, flat facies, anosmia and combined immune deficiency (CID). Birth Defects Orig Artic Ser. 1978; 14(6A): 103-16.
Khalil K.C., Dayal P.K., Gopa Kumar R., Prashanth S. Aglossia: A case report. Quintessence Int.1995; 26: 359-60.
Goto S., Tanaka S., Iizuka T. A case report of congenital aglossia. Aichi Gakuin Dent Sci. 1991; 4: 7-14.
Kollar E.M., Diner P.A., Vazquez M.P., Accart G., Pirollo M. [Bone distraction using an external fixator: a new mandibular lengthening technic. A preliminary study apropos of 2 cases of children with mandibular hypoplasia]. Rev Stomatol Chir Maxillofac. 1994; 95(6): 411-6.
Bommarito S., Zanato L.E., Vieira M.M., Angelieri F. Aglossia: Case Report. Int Arch Otorhinolaryngol. 2015; 20(1): 87-92. doi:10.1055/s-0034-1544116
- Refbacks are not listed
Контент доступен под лицензией Creative Commons Attribution 3.0 License.