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
Dans Anglais
| 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
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Syndrome de Noonan
Type d'étude:
Etude diagnostique
Limites du sujet:
Adolescent
/
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Bébé
/
Mâle
langue:
Anglais
Texte intégral:
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
Thème du journal:
Médicament
Année:
1999
Type:
Article
Pays d'affiliation:
Brésil
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