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2012, Number 1

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Rev Cub Gen 2012; 6 (1)

A case presentation with Setleis syndrome and congenital cardiopathy

de León ONE, Pérez MMT, Morales PE

Language: Spanish
References: 10
Page: 53-56
PDF size: 577.59 Kb.


ABSTRACT

Setleis syndrome is a genetic disease with focal facial dermal hypoplasia reminding forceps temporal marks. Previous articles have discussed this disease in cases compatible with autosomal inheritance, both dominant and recessive. This report describes a patient with congenital cardiopathy, bitemporal marks because of dermal hypoplasia and skin changes with hyper and hypopigmented areas in skin, as well as asymmetric limbs. To date this is the first published Cuban case with clinical signs of Setleis syndrome. A few cases have been previously described with this clinical disorder in international publications, a fact that makes it important to know clinical signs in patients in order to describe the syndrome correctly.


REFERENCES

  1. Setleis, H.; Kramer, B.; Valcarcel, M.; Einhorn, A. H. Congenital ectodermal dysplasia of the face. Pediatrics. 1963;32:540-1. 548.

  2. McGaughrand JM, Aftimos S. Setleis Syndrome: Three new cases and review of the literature. Am Jo Med Gen. 2. 2002;111:376-80.

  3. Graul-Neumann LM, Stieler KM, Blume-Peytavi U, Tzschach A. Autosomal dominant inheritance in a large family with 3. focal facial dermal dysplasia (Brauer–Setleis Syndrome). Am J Med Genet Part A. 2009;149A:746–750.

  4. Kent JS, Romanchuk KG, Lemire EG. Ophthalmic findings in Setleis syndrome: two new cases in a mother and son. Can 4. J Ophthalmol. 2007 Jun;42(3):471-3.

  5. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins 5. University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), {consultado 2010 Dic 11}. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/

  6. CDI Dismorphology [monografía en CD-ROM]. Winter R, Baraitser M. Polihedron software 6. ltdltd for Oxford Medical press electronic publishing. 1ed Versión 1.0. London; 1996.

  7. Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. 7. Homozygous nonsense mutations in TWIST2 cause Setleis Syndrome. The Am Jo Hum Gen. 2010;87(2):289-296.

  8. Rosenberg JG, Drolet BA. What syndrome is this? Setleis syndrome. Pediatr Dermatol. 2004 Jan-Feb;21(1):82-3. 8.

  9. Kowalski DC, Fenske NA. The focal facial dermal dysplasias: report of a kindred and a proposed new classification. J Am 9. Acad Dermatol. 1992 Oct;27(4):575-82.

  10. Tanabe A, Kusumoto K, Suzuki K, Ogawa Y. Treatment of Setleis syndrome. Case report. Scand J Plast Reconstr Surg 10. Hand Surg. 2001;35(1):107-11.




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