title: Noonan syndrome: a clinical and genetic study of 31 patients.
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%); 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.
authors.affiliation: Genetics Clinic Unit, Child Institute, School of Medicine, University of São Paulo, São Paulo, Brazil.
authors.forename: D R
authors.initials: DR
authors.lastname: Bertola
authors.forename: S M
authors.initials: SM
authors.lastname: Sugayama
authors.forename: L M
authors.initials: LM
authors.lastname: Albano
authors.forename: C A
authors.initials: CA
authors.lastname: Kim
authors.forename: C H
authors.initials: CH
authors.lastname: Gonzalez
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics