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
Artículo
en Inglés
| 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:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Síndrome de Noonan
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
Idioma:
Inglés
Revista:
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
Asunto de la revista:
Medicina
Año:
1999
Tipo del documento:
Artículo
País de afiliación:
Brasil
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