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Colegio de Medicos y Cirujanos República de Costa Rica

2015, Number 616

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Rev Med Cos Cen 2015; 72 (616)

Síndrome Facio -audio - sinfalan gismo: Reporte de un caso y revisión de la literatura

Marín MA, Figuera VLE

Language: Spanish
References: 9
Page: 611-616
PDF size: 620.73 Kb.


ABSTRACT

The symphalangism is a disease with autosomal dominant trait that is characterized by ankylosis of the interphalangeal joints. In Mexico, there is no epidemiological data available for this disease. The presented case is of a 18 year old male that was initially send to the Genetic service for a probable diagnose of Marfan syndrome. Proved by clinical and x-rays the patient was classified as Facio -audiosymphalangism syndrome. The mother has similar clinical and radiographic features as the patient; there is a family history for consanguinity that apparently had the same clinical entity. It´s noteworthy the persistent high levels of alkaline phosphatase in the laboratory results of the patient.


REFERENCES

  1. Cushing H. Hereditary anchylosis of the proximal phalangeal joints (symphalangism). 1915. Clin. Orthop.Relat Res. 2002; 401:4-5.

  2. Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J, III et al. GDF5 is a second locus for multiple-synostosis syndrome. Am.J.Hum.Genet. 2006); 78(4):708- 712.

  3. Declau F, Van den Ende J, Baten E, & Mattelaer P. Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome. Otol.Neurotol. 2005; 26(5):934-940.

  4. Herrmann J. Symphalangism and brachydactyly syndrome: report of the WL symphalangismbrachydactyly syndrome: review of literature and classification. Birth Defects Orig.Artic.Ser. 1974; 10(5):23-53.

  5. Hurvitz SA, Goodman RM, Hertz M, Katznelson MB, & Sack Y. The facio-audio-symphalangism syndrome: report of a case and review of the literature. Clin.Genet. 1985; 28(1):61-68.

  6. Maroteaux P, Bouvet JP, & Briard ML. [Multiple synostosis disease]. Nouv.Presse Med. 1972; 1(45):3041- 3047.

  7. Potti TA, Petty EM, & Lesperance MM. A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-relatedsymphalangism spectrum disorder (NOG-SSD). Hum.Mutat. 2011; 32(8):877-886.

  8. Rudnik-Schoneborn S, Takahashi T, Busse S, Schmidt T, Senderek J, Eggermann T, et al. Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. Am.J.Med.Genet.A. 2010; 152A(6):1540-1544.

  9. Van den Ende JJ, Mattelaer P, Declau F, Vanhoenacker F, Claes J, Van HE, et al. The facio-audiosymphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. Clin. Dysmorphol. 2005; 14(2):73-80.




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