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Colegio de Medicos y Cirujanos República de Costa Rica

2017, Number 624

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Rev Med Cos Cen 2017; 84 (624)

Síndrome cornelia de lange: reporte de caso

Aceves-Aceves MA, Salazar-Dávalos IM, Marín-Medina A, García-Cruz D, Valdovinos-Maravilla JP, Romero-Morán MF, Rodríguez-González G, Alonso-Barragán SA, González-Mercado MG, Dávalos-Rodríguez NO, Gómez-Ramos JJ, Dávalos-Rodríguez IP

Language: Spanish
References: 9
Page: 115-118
PDF size: 176.53 Kb.


ABSTRACT

Cornelia de Lange Syndrome is a multisystemic disorder, clinical and genetical heterogeneity, and characterized by neurological alterations, craniofacial features such as arched eyebrows, synophrys, anteverted nares, “carp” mouth, gastrointestinal and musculoskeletal alterations. Mutations in NIPBL (MIM 608667) in more than 50% of cases and in genes SMC1A (MIM 300040), SMC3 (MIM 606062), RAD21 (MIM 606462) and HDAC8 (MIM 300269) have been reported. We present a 11-year-old male patient whose typical clinical features lead us to diagnose CdLS.


REFERENCES

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