Bertola D R, Sugayama S M, Albano L M, Kim C A, Gonzalez C H
Genetics Clinic Unit, Child Institute, School of Medicine, University of São Paulo, São Paulo, Brazil.
Rev Hosp Clin Fac Med Sao Paulo. 1999 Sep-Oct;54(5):147-50. doi: 10.1590/s0041-87811999000500003.
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.
努南综合征是一种多先天性异常综合征，以常染色体显性模式遗传。我们研究了31例受该疾病影响的患者（18名男性和13名女性）的临床和遗传特征。最常见的临床发现是身材矮小（71%）；颅面部畸形，尤其是眼距过宽、上睑下垂、睑裂向下倾斜；短颈或蹼颈（87%）；心脏异常（65%），以及手指和脚趾的胎儿垫（70%）。在研究先证者的一级亲属后，我们在三个家庭的不止一名家庭成员中诊断出努南综合征。因此，我们的大多数病例是散发性的。
