The Noonan Syndrome
Overview
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Twenty-one patients with Noonan syndrome are presented. Telecanthus low-set ears, epicanthus and facial asymmetry were the commoner facial stigmata. Pterygium colli, pectus excavatum-carinatum and mild physical and mental retardation were also common features. Pulmonary stenosis and patent ductus arteriosus were the most frequent cardiac anomalies. Wide QRS, left axis deviation, giant Q waves and a negative pattern in V6 were useful electrocardiographic signs. We speculate that the Noonan syndrome could be considered as a branchial arch development syndrome.
Electrocardiographic Changes with Age in Japanese Patients with Noonan Syndrome.
Ichikawa Y, Kuroda H, Ikegawa T, Kawai S, Ono S, Kim K J Cardiovasc Dev Dis. 2024; 11(1).
PMID: 38248880 PMC: 10816141. DOI: 10.3390/jcdd11010010.
RASopathies and cardiac manifestations.
Hilal N, Chen Z, Chen M, Choudhury S Front Cardiovasc Med. 2023; 10:1176828.
PMID: 37529712 PMC: 10387527. DOI: 10.3389/fcvm.2023.1176828.
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L, Xie Y, Wang S, Zhang Z Front Genet. 2022; 13:915129.
PMID: 35770001 PMC: 9234298. DOI: 10.3389/fgene.2022.915129.
Monda E, Rubino M, Lioncino M, Di Fraia F, Pacileo R, Verrillo F Front Pediatr. 2021; 9:632293.
PMID: 33718303 PMC: 7947260. DOI: 10.3389/fped.2021.632293.
Noonan syndrome patient-specific induced cardiomyocyte model carrying SOS1 gene variant c.1654A>G.
Gurusamy N, Rajasingh S, Sigamani V, Rajasingh R, Isai D, Czirok A Exp Cell Res. 2021; 400(1):112508.
PMID: 33549576 PMC: 8542457. DOI: 10.1016/j.yexcr.2021.112508.