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
Article
em En
| LILACS
| ID: lil-255569
Biblioteca responsável:
BR1.1
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:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Síndrome de Noonan
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
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Infant
/
Male
Idioma:
En
Revista:
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
Ano de publicação:
1999
Tipo de documento:
Article