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Colegio de Medicos y Cirujanos República de Costa Rica

2014, Number 610

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Rev Med Cos Cen 2014; 71 (610)

Sindrome de Noonan

Retana GV, Segura AL

Language: Spanish
References: 13
Page: 235-238
PDF size: 258.84 Kb.


ABSTRACT

Noonan Syndrome is a relative common autosomic dominant congenital disorder, with an incidence between 1:1,000 and 1:2,500 children worldwide. The gen is in 12q22 chromosome. The principal features include short stature, typical facial dysmorphology and congenital heart disease, among others. The range and severity of features can vary greatly in patients with NS, therefore, establishing a diagnose is difficult. The syndrome is not always identified at an early age, and many times misdiagnosed.


REFERENCES

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  4. Kulkarni, Ramesh. Noonan Syndrome. Indian Pediatrics 2003, 40:431-432.

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  9. Noordamk. Expanding the genetic spectrum of Noonan Syndrome. Horm Res 2007, pagina 24.

  10. Rodriguez María M., Bruce Jocelyn H. , Jimenez Xavier F., Romaguera Rita, Bancalari Eduardo, Garcia Otto, Ferrer Peter . Nonimmune Hydrops Fetalis in the Liveborn: Series of 32 Autopsies. Pediatric and Developmental Pathollogy 2005, 369-378

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