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Year : 2014? |? Volume : 3? |? Issue : 1? |? Page : 3-4 |
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Searching for new syndromes: Oculo-dento-glosso-mandibular syndrome
Adriano Bechara de Souza Hobaika1, Thaís Costa Nascentes Queiroz2
1?Master of Science in Medicine, Co-Responsible for the Anesthesiology Residency of Santa Casa BH, Staff Anesthesiologist, Mater Dei Hospital,
2?Master of Science in Child and Adolescent Health Sciences, Member of the Pediatric Gastroenterology Group UFMG, Staff Pediatrician UFMG, Staff Pediatrician Mater Dei Hospital,
| Date of Submission |
18-Jan-2014 |
| Date of Acceptance |
18-Jan-2014 |
| Date of Web Publication |
11-Apr-2014 |
Correspondence Address:
Adriano Bechara de Souza Hobaika
MSc in Medicine, Staff Anesthesiologist, Mater Dei Hospital
DOI: 10.4103/2278-9588.130429
How to cite this article:
Hobaika Ad, Queiroz TN. Searching for new syndromes: Oculo-dento-glosso-mandibular syndrome. J Cranio Max Dis 2014;3:3-4 |
How to cite this URL:
Hobaika Ad, Queiroz TN. Searching for new syndromes: Oculo-dento-glosso-mandibular syndrome. J Cranio Max Dis [serial online] 2014 [cited?2014 Sep 7];3:3-4. Available from:?https://craniomaxillary.com/text.asp?2014/3/1/3/130429 |
A syndrome is an assembly of signs and symptoms, which, together, characterizes a specific disease. Some have a single cause and others may have multiple or even unknown cause. Despite the progress of medicine, a patient with an association of congenital alterations is still a challenge nowadays. The mission of performing the diagnosis is difficult, for the reason that even if the association of symptoms is pointing to any specific disease, each patient can present these symptoms in a very different way. Diagnosing a new syndrome, in a universe of thousands already described, becomes a huge task. The physicians engaged must perform numerous, careful examinations, a multidisciplinary team (geneticists, pediatricians, surgeons, and neurologists) must be consulted, and an extensive literature search must be made. Nevertheless, it's essential to wait for the reporting of new patients, and subsequently, the major and minor syndrome criteria could be better defined. Once a diagnosis is achieved, it is the physician's responsible to indicate the best clinical treatment and the possible surgical corrections. The accomplishment of the final diagnosis and it's cause is not always easy or possible. Approximately 40-60% of the patients remains without accurate diagnosis or are diagnosed with a supposed unique "provisional syndrome" - they display a pattern of multiple anomalies that fulfills the criteria for classification of a syndrome, however, is not possible to fits them in syndromes previously described.
The most striking anomalies of the patient presented by Patney and Pai - microphthalmia, blindness, coloboma, microglossia, hypodontia, mandibular retrognathism, were crossed in computer programs (POSSUM, OMIM). [1],[2],[3] Also books of syndromic diagnosis were consulted and no one combination of these symptoms combination was found. [4],[5]
Coloboma, microphthalmia, mandibular alterations occur frequently in the Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia. [6],[7] This syndrome involves the first and second branchial arches and is associated with ocular anomalies with or without abnormalities of the vertebrae or the ear. [8] Vertebral abnormalities are described in 40-60% of patients and the conductive hearing loss and/or sensorineural is present in 50%. [6],[8] Vendramini et al., verified that 27 and 20 patients had hearing loss and microtia, respectively, of the 28 patients with Goldenhar syndrome. [7] Other systemic anomalies such as cardiovascular are also described. The absence of the majority of these findings, in particular the loss of hearing, corroborate for confirmation of a new syndromic entity: oculo-dento-glosso-mandibular syndrome.
Consanguinity between parents implies (but does not prove) autosomal recessive inheritance. The final diagnosis must be defined, whenever possible, accompanied by the establishment of a specific etiology. This will allow the correct genetic counseling and better explanation to parents. Our understanding of unknown syndromes is crucial for the treatment and the monitoring of the carriers.
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??References |
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| 1. |
Patney A, Pai KM. Occulo-dento-glosso-mandibular syndrome. J Cranio Max Dis. 2014;1:49-50.??
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| 2. |
Murdoch Childrens Research Institute. POSSUM Web. Available from: http://www.possum.net.au [Last accessed on 2014 Jan 18].??
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| 3. |
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). Available from: http://omim.org/ [Last accessed on 2014 Jan 18].??
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| 4. |
Jones KL. Smith's recognizable patterns of human malformations. 6 th ed. Philadelphia: W.B. Saunders; 2006.??
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| 5. |
Hennekan RCM, Krantz ID, Allanson JE. Gorlin's Syndromes of the head and neck. 5 th ed. New York: Oxford University Press; 2010.??
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| 6. |
Mahore A, Dange N, Nama S, Goel A. Facio-auriculo-vertebro-cephalic spectrum of Goldenhar syndrome. Neurol India 2010;58:141-4.??
[PUBMED]?? ?? |
| 7. |
Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoauriculovertebral spectrum with radial defects: A new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature. Eur J Hum Genet 2007;15:411-21.??
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| 8. |
Mehta B, Nayak C, Savant S, Amladi S. Goldenhar syndrome with unusual features. Indian J Dermatol Venereol Leprol 2008;74:254-6.??
[PUBMED]???? |
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