Noonan syndrome: a clinical and genetic study of 31 patients


Autoria(s): Bertola,Débora Romeo; Sugayama,Sofia M. M.; Albano,Lilian Maria José; Chong,Ae Kim; Gonzalez,Claudette Hajaj
Data(s)

01/10/1999

Resumo

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.

Formato

text/html

Identificador

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87811999000500003

Idioma(s)

en

Publicador

Faculdade de Medicina / Universidade de São Paulo - FM/USP

Fonte

Revista do Hospital das Clínicas v.54 n.5 1999

Palavras-Chave #Noonan syndrome #Valvar pulmonary stenosis #Autosomal dominant #Proband
Tipo

journal article