Articles: noonan-syndrome.
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Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome are common types of genetic syndromes (GSs) characterized by distinct facial features, pulmonary stenosis, and delayed growth. In clinical practice, differentiating these three GSs remains a challenge. Facial gestalts serve as a diagnostic tool for recognizing Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome. Pretrained foundation models (PFMs) can be considered the foundation for small-scale tasks. By pretraining with a foundation model, we propose facial recognition models for identifying these syndromes. ⋯ A facial recognition-based model has the potential to improve the identification of three common GSs with pulmonary stenosis. PFMs might be valuable for building screening models for facial recognition. Key messages What is already known on this topic: Early identification of genetic syndromes (GSs) is crucial for the management and prognosis of children with pulmonary stenosis (PS). Facial phenotyping with convolutional neural networks (CNNs) often requires large-scale training data, limiting its usefulness for GSs. What this study adds: We successfully built multi-classification models based on face recognition using a CNN to accurately identify three common PS-associated GSs. ResNet-100 with a pretrained foundation model (PFM) and CosFace loss function achieved the best accuracy (84.8%). Pretrained with the foundation model, the performance of the models significantly improved, although the impact of the type of loss function appeared to be minimal. How this study might affect research, practice, or policy: A facial recognition-based model has the potential to improve the identification of GSs in children with PS. The PFM might be valuable for building identification models for facial detection.
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There are a few studies regarding intracranial findings in neonates with Noonan syndrome (NS); however, there are no quantitative analyses in a pediatric population. The aim of this study was to find characteristic intracranial abnormalities and to quantitatively analyze the posterior fossa and cranium base in children with NS. ⋯ Children with NS had characteristic callosal and tentorial findings and neuroimaging findings similar to other RASopathies. This study also shows that a small posterior fossa and flattening of the cranial base are present in children with NS, which may aid in diagnosis.
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Case Reports
Isolated pulmonary valve endocarditis with pulmonary annular abscess in a patient of Noonan syndrome.
Right-sided endocarditis is a rare entity, with various series reporting an incidence of 5%-10%. Pulmonary valve (PV) is not only the least commonly involved valve in infective endocarditis (IE), with an incidence of 1.5%-2%, but 'isolated' pulmonic valve endocarditis (PVE) without tricuspid valve involvement is even rarer with limited published data. ⋯ Initially, he was managed conservatively, but due to persistent fever, pulmonary regurgitation and evidence of pulmonary annular abscess extending into the right ventricular outflow tract, he required surgical intervention. Considering the low incidence of isolated PVE, it poses a challenge for physicians in prompt diagnosis and timely management of the infection.
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Features of Noonan syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart disease, bleeding problems, skeletal malformations, and developmental delay. Although pulmonary stenosis is most commonly reported, up to 20% of patients have hypertrophic cardiomyopathy (HCM). We report the use of a combined spinal-caudal epidural anesthesia technique during urologic surgery (pyeloplasty) in an 8-week-old infant with Noonan syndrome and HCM. A spinal-caudal epidural technique provides favorable hemodynamic conditions, avoids the need for airway instrumentation, and may serve as an alternative to general anesthesia in these high risk patients.
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A 19-year-old male undergraduate presented to the eye clinic with a history of poor vision in the left eye since childhood. The best-corrected visual acuity was 6/6 in the right eye and hand movement in the left eye respectively. Examination of the anterior segment of the right eye was essentially normal, whereas the anterior segment examination of the left eye revealed a small globe, microcornea, and an iris coloboma inferiorly at the 6 o'clock position. ⋯ The left eye had a pink disc, normal macula and vessels with an inferior arc-shaped excavation with exposure of the sclera, which involved both the disc and macula and was in keeping with a retinochoroidal coloboma. Systemic examination revealed low-set ears with a left atrophic pinna, mild kyphoscoliosis, pectus excavatum, and an atrophic left lower limb with anomalies of the toes and talipes equinovarus. A pan-systolic murmur was present on cardiovascular examination.