Noonan syndrome: a clinical and genetic study of 31 patients
DOI:
https://doi.org/10.1590/S0041-87811999000500003Keywords:
Noonan syndr, Valvar pulmonary steno, Autosomal domin, ProbAbstract
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.Downloads
Published
1999-10-01
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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