Noonan syndrome: a clinical and genetic study of 31 patients
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
;
54(5): 147-50, Sept.-Oct. 1999. tab
Artigo
em Inglês
| LILACS
| ID: lil-255569
ABSTRACT
Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71 percent); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87 percent); cardiac anomalies (65 percent), and fetal pads in fingers and toes (70 percent). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Síndrome de Noonan
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
Assunto da revista:
Medicina
Ano de publicação:
1999
Tipo de documento:
Artigo
País de afiliação:
Brasil
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