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Noonan syndrome: a clinical and genetic study of 31 patients.

D R Bertola1, S M Sugayama, L M Albano

  • 1Genetics Clinic Unit, Child Institute, School of Medicine, University of São Paulo, São Paulo, Brazil.

Revista Do Hospital Das Clinicas
|May 2, 2000
PubMed
Summary

Noonan syndrome, a genetic disorder, presents with distinct physical features and heart defects. This study analyzed 31 patients, finding short stature and neck webbing most common, with most cases appearing sporadic.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Noonan syndrome is an autosomal dominant inherited disorder.
  • It is characterized by multiple congenital anomalies.

Purpose of the Study:

  • To investigate the clinical and genetic characteristics of Noonan syndrome.
  • To determine the frequency of familial versus sporadic cases.

Main Methods:

  • Clinical evaluation of 31 patients with Noonan syndrome.
  • Assessment of first-degree relatives for familial cases.

Main Results:

  • The most common findings included short stature (71%), craniofacial dysmorphisms, short or webbed neck (87%), cardiac anomalies (65%), and fetal pads (70%).
  • Three families had multiple affected members, indicating the majority of studied cases were sporadic.

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Conclusions:

  • Noonan syndrome exhibits a wide range of clinical manifestations.
  • While inherited, sporadic cases are predominant in the studied cohort.