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Copyright of Pamukkale Medical Journal is the property of Pamukkale Journal of Medicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of MN Opthalmology / MN Oftalmoloji is the property of Medical Network and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Dominant pathogenic variants in 29 RAS-MAPK (Rat-sarcoma-Mitogen-activated-protein-kinase) pathway genes, important for the regulation of cell growth, differentiation, aging and cell-cycle, are responsible for RASopathies, Noonan syndrome (NS) is the most common form. PTPN11 variants are detected in 50% of the cases, 90% being identified in the first SH2 and in the catalytic domain at the N- and C-terminals of the peptide, respectively. Increased nuchal translucency (NT), lymphatic system anomalies (cystic hygroma, pleural effusion, ascites), cardiac anomalies, polyhydramnios, short limb and macrocephaly are the NS-associated prenatal findings. PTPN11 association is reported in 2-3% of normal karyotyped fetuses with NT and in >10% when other NS findings are included. Material and Method: PTPN11 analysis with different approaches in 246 normal karyotyped prenatal cases with NS-associated USG findings were retrospectively evaluated. The targeted PTPN11 regions in 200 and the whole gene structure of 46 cases were examined by Sanger sequencing. Results: Pathogenic variants, including two novel variants (p.P107S and p.M504T), were identified in two fetuses with isolated NT and in three fetuses with multiple USG findings, leading to a 2% of detection rate, all found in targeted exons. Two of six cases, further investigated for targets of four Rasopathy genes, had causative genes in SOS1. One of three terminated fetuses, investigated for the targeted-gene panel, had a causative gene in RAF1 genes. Both the isolated NT and multiple USG finding groups revealed an equal detection rate of 2.3%. Discussion: PTPN11 is responsible for 50% of RASopathies and 90% of the pathogenic variants are delineated in the targeted exons. The rational, cost-effective approach for the clarification of the genetic basis of RASopathies is screening the addressed exons of PTPN11 followed by the other exons and other RASopathy related genes. [ABSTRACT FROM AUTHOR]

The purpose of the present case report is to describe and discuss important ocular findings in Noonan syndrome. Detailed ophthalmological examination of two patients with Noonan syndrome was performed. Ocular findings were discussed in detail. The leading ocular findings in the first case were; astigmatism, amblyopia and high cup/disc ratio whereas in the second case colobomatous changes of the optic nerve head and myelinated nerve fibers were prominent. Noonan syndrome is among the neuro-cardio-facio-cutaneous syndromes also called ''RASopathies''. Ocular findings in this syndrome may be special and particularly optic nerve head changes may necessitate further investigation. [ABSTRACT FROM AUTHOR]

Neurofibromatosis (NF) Type 1 (NF-1) is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other systems. Noonan syndrome (NS) is a clinically heterogeneous disorder predominantly characterized by dysmorphic facial features, congenital heart disease, proportionate post-natal short stature, neck abnormalities, and chest deformities. NF-NS is a very rare overlapping syndrome sharing many features of both syndromes. Coexistence of pheochromocytoma, which can be life-threatening if not treated properly, is also a very rare complication of this disorder. Here, we report a patient who was admitted with a mass in the right upper quadrant and was diagnosed with pheochromocytoma and NFNS. [ABSTRACT FROM AUTHOR]

Noonan syndrome is a genetically transmitted autosomal dominant disorder characterized by various anatomic anomalies and pathophysiologic derangements. Associated anomalies include hyperthelorism, ptosis, micrognathia, downward sloping palpebral fissures, low-set ears, abnormal helix of ear, deeply grooved philtrum, short and/ or webbed neck, low hairline and cervical vertebral anomalies. Patients with Noonan syndrome are known to present with challenging airways. Tracheal intubation can be difficult because of airway and cervical vertebral anomalies and bag mask ventilation may be difficult because of asymmetrical face. We present a case of anesthetic management for Noonan syndrome. [ABSTRACT FROM AUTHOR]

Non immune hydrops fetalis is defined as the excessive accumulation of fluid in two or more compartments of the fetus in the absence of any maternal-fetal blood incompatibility. The clinical presentations include ascites, scalp edema, pleural or pericardial effusions and polyhydramnios. Perinatal mortality in this severe clinical condition is high, between 50-98%. Prematurity is an important risk factor for mortality. Despite many advances in diagnosis, therapy and ventilation management during the last decade in neonatal intensive care units, the mortality rate has not changed very much for hydropic infants. This is the report of the management of two premature infants born severely hydropic. The first infant had tachyarrhythmia, the second infant had Noonan syndrome. Both infants had a good prognosis. [ABSTRACT FROM AUTHOR]

Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24-yr-old woman patient with the diagnosis of Noonan syndrome who was admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasizes that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance. [ABSTRACT FROM AUTHOR]