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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]

Purpose: Ocular coloboma is a rare malformation involving the iris, ciliary body, choroid, retina and the optic nerve. It develops as a result of the optical fissure closure defect during embryogenesis. In this study, we aimed to present the clinical features, accompanying ocular findings and systemic diseases of patients with any ocular coloboma presenting to our clinic. Materials and methods: Twenty seven eyes of 19 patients with ocular coloboma admitted to our clinic were included in this study. Age, gender, involved eye, visual acuity, cycloplegic refraction values, anterior and posterior segment findings, strabismus type and systemic problems were recorded. Results: Of all patients 12 were female and 7 were male. The mean age of the patients was 4.8 (0.3-9) years. Involvement was bilateral in 8 cases (42%), on the right in 5 cases, and on the left in 6 cases. Three eyes had iris coloboma only. Of the 22 eyes with chorioretinal coloboma, 15 involved the OD. Strabismus was observed in 13 (66.7%) patients, most of them (76.9%) were esotropic. The mean values of spheric refraction and visual acuity in eyes with coloboma were +2.40 and 3/10, and in eyes without coloboma +1.88 and 8/10 respectively. Eight patients (42%) had extraocular problems. These included growth retardation, Noonan syndrome, Type 1 Chiari malformation, congenital heart vessel anomaly, multycystic kidney, vaginal stricture, precocious puberty and inguinal hernia. Conclusion: Colobomas are rare malformations involving many ocular tissues. Because of its frequent association with ocular and systemic diseases, detailed eye examination, refractive error correction and monitorisation for possible complications should be performed continiously. [ABSTRACT FROM AUTHOR]

Noonan syndrome is characterized by fascial and physical features along with congenital heart disease. In these patients, fascial features include short webbed neck, micrognathia, limited mouth opening and high arched palate. Pulmonary stenosis and hypertrophic obstructive cardiomyopathy are highly prevalent in Noonan's syndrome. The anesthetic management is important because of difficult airway and severe cardiac abnormalities. We reported that anesthetic management of a child with Noonan's syndrome. [Cukurova Med J 2015; 40(Suppl 1): 47-50]

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. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 227-31)

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]