Noonan syndrome: a clinical and genetic study of 31 patients

Author:

Bertola Débora Romeo1,Sugayama Sofia M. M.1,Albano Lilian Maria José1,Chong Ae Kim1,Gonzalez Claudette Hajaj1

Affiliation:

1. University of São Paulo, Brazil

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.

Publisher

FapUNIFESP (SciELO)

Subject

General Medicine

Reference17 articles.

1. Associated noncardiac malformations in children with congenital heart disease;NOONAN JA;J Pediatr,1963

2. The Ullrich-Noonan syndrome (Turner phenotype);NORA JJ;Am J Dis Child,1974

3. Direct male to male transmission of the XY Turner phenotype;NORA JJ;Lancet,1970

4. XX and XY Turner phenotypes in a family;LEVY EP;Am J Dis Child,1970

5. Mapping a gene for Noonan syndrome to the long arm of chromosome 12;JAMIESON CR;Nature Genet,1994

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