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2012, Number 1

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Ciencia UG 2012; 2 (1)

Reporte de un caso: Síndrome de Cornelia de Lange

Navarro SR, Oñate RMB, Orozco ML
Full text How to cite this article

Language: Spanish
References: 13
Page: 5-7
PDF size: 520.89 Kb.


Key words:

Cornelia de Lange Syndrome, dysmorphism, developmental delay, growth retardation, heart defects, gastrointestinal malformations.

ABSTRACT

The Cornelia de Lange Syndrome is a congenital development disorder. It occurs in offspring of consanguineous parents by autosomal recessive inheritance. Its incidence is 1 per 10,000 inhabitants, and most appear to be sporadic. Clinically characterized by dysmorphism, developmental delay and growth retardation, upper limb malformations, heart defects and gastrointestinal abnormalities. We report a case of a newborn with Cornelia de Lange syndrome and review of the literature.


REFERENCES

  1. Opitz JM. Editorial comment: The Brachmann-de Lange syndrome. Am J Med Genet. 1985; 22(1):89–102.

  2. Brachmann W . Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitäten (Zwerghaftigkeit, Halsrippen, Behaarung) [A case of symmetrical monodactyly representing ulnar deficiency, with symmetrical antecubital webbing and other abnormalities (dwarfish, cervical ribs, hirsutism)]. Jahrbuch für Kinderheilkunde und physische Erziehung. 1916;84:225–35.

  3. De Lange C. Sur un type nouveau de dégénération (typus Amstelodamnesis) [On a new type of degeneration (type Amstelodamnesis)]. Arch Méd Enfants. 1993; 36:713–19.

  4. Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet. 1993; 47(7):1053–58.

  5. Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet. 1993; 47(7):940–46

  6. Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Arch Dis Child. 1999; 81(4):333-36.

  7. Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet. 2007; 145C(3):248–60.

  8. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004;75(4):610–23.

  9. Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet. 1993;47(7):959–64.

  10. Selicorni A, Lalatta F, Livini E, Briscioli V, Piguzzi T, Bagozzi DC et al. Variability of the Brachmann-de Lange syndrome. Am J Med Genet. 1993;47(7):977–82.

  11. Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM et al. Clinical variability within Brachmann-de Lange syndrome: aproposed classification system. Am J Med Genet. 1993;47(7):947–58.

  12. Allanson JE, Hennekam RC, Ireland M. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J Med Genet. 1997; 34(8):645–50.

  13. Deardorff MA, Clark DM, Krantz ID. Cornelia de Lange Syndrome. 2005 Sep 16 [Updated 2011 Oct 27]. In: Pagon RA, Bird TD, Dolan CR et al., editors. GeneReviews™ [Libro en Internet]. Seattle (WA): University of Washington, Seattle; 1993-. [Consulta el 26 de abril de 2001]. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK1104/.




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Ciencia UG. 2012;2