Noonan syndrome: a clinical and genetic study of 31 patients

Authors

  • Débora Romeo Bertola University of São Paulo; School of Medicine; Child Institute; Genetics Clinic Unit
  • Sofia M. M. Sugayama University of São Paulo; School of Medicine; Child Institute; Genetics Clinic Unit
  • Lilian Maria José Albano University of São Paulo; School of Medicine; Child Institute; Genetics Clinic Unit
  • Ae Kim Chong University of São Paulo; School of Medicine; Child Institute; Genetics Clinic Unit
  • Claudette Hajaj Gonzalez University of São Paulo; School of Medicine; Child Institute; Genetics Clinic Unit

DOI:

https://doi.org/10.1590/S0041-87811999000500003

Keywords:

Noonan syndr, Valvar pulmonary steno, Autosomal domin, Prob

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.

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Published

1999-10-01

Issue

Section

Original Articles

How to Cite

Noonan syndrome: a clinical and genetic study of 31 patients . (1999). Revista Do Hospital Das Clínicas, 54(5), 147-150. https://doi.org/10.1590/S0041-87811999000500003