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Anomalia de Poland e…
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Advisor(s)
Abstract(s)
RESUMO
A Neurofibromatose do tipo 1 (NF1;
MIM 162200) é o síndrome neurocutâneo
mais frequente. O diagnóstico é clínico,
baseado em critérios estabelecidos desde
1987.
O Síndrome de Noonan (SN; MIM
605275) caracteriza-se por fácies peculiar,
baixa estatura e cardiopatia congénita.
A hereditariedade é autossómica
dominante e mutações no gene PTPN11
foram encontradas em cerca de 50% dos
casos.
A associação do fenótipo Noonan
com a Neurofibromatose do tipo 1 foi
descrita pela primeira vez por Allanson et
al em 1985.
Os autores descrevem o caso clínico
de uma criança do sexo feminino, actualmente
com 4 anos de idade, enviada
à consulta de Pediatria por apresentar
uma anomalia de Poland. O exame físico
e história familiar desta criança permitiram
fazer o diagnóstico de neurofibromatose
do tipo 1 com fenótipo de Noonan.
Foi também possível identificar mais dois
casos de Neurofibromatose do tipo 1 em
dois familiares directos.
ABSTRACT Neurofibromatosis type 1 (NF1; MIM 162200) is the most frequent neurocutaneous syndrome. The diagnosis is based on clinical findings developed in 1987. Noonan syndrome (NS; MIM 605275) is characterized by typical facial appearance, short stature and congenital heart defects. It is inherited as an autosomal dominant trait and the molecular genetic testing identifies mutations in the PTPN11 gene in 50% of affected individuals. The association of the Noonan phenotype with Neurofibromatosis type 1 was fi rst noted by Allanson et al in 1985. The authors report the case of a 4-year-old girl referred to our Paediatric Department for the evaluation of Poland Anomaly. Clinical examination and family history allowed the diagnosis of Neurofibromatosis with Noonan phenotype. It was possible to identify two more relatives with Neurobibromatosis 1.
ABSTRACT Neurofibromatosis type 1 (NF1; MIM 162200) is the most frequent neurocutaneous syndrome. The diagnosis is based on clinical findings developed in 1987. Noonan syndrome (NS; MIM 605275) is characterized by typical facial appearance, short stature and congenital heart defects. It is inherited as an autosomal dominant trait and the molecular genetic testing identifies mutations in the PTPN11 gene in 50% of affected individuals. The association of the Noonan phenotype with Neurofibromatosis type 1 was fi rst noted by Allanson et al in 1985. The authors report the case of a 4-year-old girl referred to our Paediatric Department for the evaluation of Poland Anomaly. Clinical examination and family history allowed the diagnosis of Neurofibromatosis with Noonan phenotype. It was possible to identify two more relatives with Neurobibromatosis 1.
Description
Keywords
Neurofibromatose Noonan anomalia de Poland Neurofibromatosis Noonan Poland anomaly
Citation
Nascer e Crescer 2008; 17(2): 75-79