2014, Number 2
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Rev Mex Pediatr 2014; 81 (2)
Seckel syndrome, two cases in Colombian family
Baquero ÁJF, Tobón RJC, Alzate GDF
Language: Spanish
References: 21
Page: 69-73
PDF size: 188.18 Kb.
ABSTRACT
Seckel syndrome is a rare genetic abnormality of autosomal recessive character, we report two cases with this diagnosis of the same family, which is rare; in addition to this it is presumed a third case (stillbirth); describes the morphologic manifestations of this anomaly.
REFERENCES
Álvarez NR, Ceballo LE, Domínguez PM, Porto AGM. Nanismo con cabeza de pájaro. Presentación de un caso. Rev Cubana Ortop Traumatol. 2001; 15(1-2): 71-73.
Faivre L, Le Menner M, Lyonnet S. Clinical and genetic heterogeneity of Seckel syndrome. Am J Med Genet. 2002; 112: 379-383.
Pachojoa H, Saldarriaga W, Izasa C. Síndrome de Seckel, dos casos en una familia colombiana. Rev Chil Pediatr. 2010; 81(5): 432-436.
Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Marion RW. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet. 1998; 70(2): 155-158.
De Coster PJ, Verbeeck RM, Holthaus V, Martens LC, Vral A. Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delay ederuption, and dentin dysmineralization: a new variant? J Oral Pathol Med. 2006; 35: 639-641.
Tanaka A, Weinel S, Nagy N, O’Driscoll M, Lai-Cheong JE et al. Germline mutation in ATR in autosomal-dominant oropharyngeal cancer syndrome. Am J Hum Genet. 2012; 90(3): 511-517.
Børglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA et al. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. Eur J Hum Genet. 2001; 9(10): 753-757.
Kilinç MO, Ninis VN, Ugur SA, Tüysüz B, Seven M, Balci S et al. Is the novel SCKL3 at 14q23 the predominant Seckel locus? Eur J Hum Genet. 2003; 11: 851-857.
Di Blasi S, Belvedere M, Pintacuda S et al. Seckel’s syndrome: a case report. J Med. 1993; 24: 75-96.
Gómez FC. Síndrome de Seckel (Dwarfismo primordial). Reporte de un caso. Hospital Regional “César Amador Molina” de Matagalpa. 2009: 1.
Black J. Low birth weight dwarfism. Arch Dis Child. 1961; 36: 633-644.
Sauk JJ, Richard L, Espiritu CE, Delaney JR. Familial Bird-headed Dwarfism (Seckel’s síndrome). J Med Genet. 1973; 10: 196-198.
Thompson Elizabeth PM. Seckel syndrome: an over-diagnosed síndrome. J Med Genet. 1985; 22: 192-201.
Starr RS. Seckel syndrome and spontaneously dislocated Lenses. J Cataract Refract Surg. 2007; 33: 910.
Andersen JS WC, Mayor T, Mortensen P, Nigg EA, Mann M. Proteomic characterization of the human centrosome by protein correlation profiling. Nature. 2003; 426(6966): 570-574.
Ersan Kalay GY, Yakup Aslan, Karen E Brown, Esther Pohl, Louise S Bicknell, Hülya Kayserili, Yun Li, Beyhan Tüysüz et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics. 2011; 43: 23-26.
Joo-Hee Sir ARB, Adeline K Nicholas, Ofelia P Carvalho, Maryam Khurshid, Alex Sossick, Stefanie Reichelt, Clive D’Santos, C Geoffrey Woods, Fanni Gergely. A primary microcephaly protein complex forms a ring around parental centrioles. Nature Genetics. 2011; 43: 1147-1153.
Biesecker KR. The decision to continue: The experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly†. American Journal of Medical Genetics. 2002; 112(4): 369-378.
William RH V. Tratado de endocrinología. 5a. ed. La Habana: Editorial Científico-Técnica; 1999.
Nelson WB BR, Vaughan VC. Tratado de pediatría. Vol. 1. 9 ed. La Habana: Editorial Científico-Técnica; 2012.
Hayani A, Zelma CR, Molnar Z, LeBeau M, Godwin J. Acute myeloid leukaemia in a patient with Seckel syndrome. J Med Genet. 1994; 148-149: 148-149.