Noonan syndrome: a clinical and genetic study of 31 patients

• Autor(a) principal: Bertola,Débora Romeo
• Data de Publicação: 1999
• Outros Autores: Sugayama,Sofia M. M., Albano,Lilian Maria José, Chong,Ae Kim, Gonzalez,Claudette Hajaj
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista do Hospital das Clínicas
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87811999000500003
• topic: Noonan syndrome; Valvar pulmonary stenosis; Autosomal dominant; Proband

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%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). 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.