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... presented short stature (size, 88 cm and weight, 12 kg). We noted a facial dysmorphism associating a triangular facies with hypertelorism [ Figure 1A], wide forhead, proeminent eyes with antimongoloid slant, long philtrum, large low-set and posteriorly rotated ears with a thickened helix [ Figure 1B]. Furthermore, she had excessive hair growth on anterior trunk, short neck, skeletal anomalies including chest deformity (broad thorax), small hands and feet. ...
Context 2
... presented short stature (size, 88 cm and weight, 12 kg). We noted a facial dysmorphism associating a triangular facies with hypertelorism [ Figure 1A], wide forhead, proeminent eyes with antimongoloid slant, long philtrum, large low-set and posteriorly rotated ears with a thickened helix [ Figure 1B]. Furthermore, she had excessive hair growth on anterior trunk, short neck, skeletal anomalies including chest deformity (broad thorax), small hands and feet. ...
Context 3
... X-ray revealed cardiomegaly, and echocardiography showed a stenosis of pulmonary artery trunk and atrial septal defect. The cytogenetic analysis based on karyotype and fluorescence in situ hybridization (FISH) performed from cell lymphocytes identified 46, XX, which eliminated a case of Turner syndrome [ Figure 1C]. ...
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We suggest the use of the molecule C12H16FN3O3 for the fight against the Noonan syndrome 13 (NS13), after docking molecular analysis.
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Citations
... PS may also be associated with atrial septal defect (10%), asymmetrical septal hypertrophy (10%), ventricular septal defect (VSD) (5%), persistent ductus arteriosus (3%), peripheral pulmonary stenosis and mitral valve prolapse. [4,9] adaptive and maladaptive changes. The presence of concentric hypertrophy coupled with predominantly end-systolic and early-diastolic flattening of the IVS in M-Mode echocardiogram, suggest adaptive changes in response to longstanding right ventricular (RV) pressure overload. ...
... Echocardiography (trans thoracic and transesophageal) is a single most diagnostic and prognostication tool in pulmonary stenosis, rarely any other modality is needed to make a primary decision. RV: Right ventricular, PS: Pulmonary stenosis Table 3: Dysmorphic syndrome associated with pulmonary stenosis Name of syndrome [4,9] and systolic pressure (1/4 th -1/5 th of LV systolic pressure) are considerably lower than LV. PA systolic pressure is almost equal (within 10 mmHg) to RV systolic pressure; diastolic pressure of PA is very low due to less muscularity and high elasticity of PV, and it falls further in the presence of pulmonary regurgitation (PR). ...
Congenital pulmonary stenosis (PS) is a common term for lesions causing right ventricular outflow obstruction. It can be further classified as the valvar, supravalvar, and infundibular PS. The PS may often present with other congenital heart diseases. In this article, echo imaging of isolated PS has been discussed. It is imperative to know that the guideline for intervention in isolated PS is totally based on echocardiography. Echocardiographic guidance is required for the selection of procedure, hardwares, evaluation of the outcome of the procedure, and long-term prognosis.
Noonan Syndrome (NS) is an autosomal dominant condition caused by mutations in multiple genes in the RAS-MAP (MitogenActivated Protein) Kinase pathway. It is typically characterised by short stature, broad webbed neck, abnormal chest shape,
congenital heart defects and developmental delay. Oral manifestations include high arched palate, micrognathia, malocclusion,
impacted teeth and jaw bones. Presented here is a case of NS in a 26-year-old female, reported to the dental clinic in College
of Dentistry, Princess Nourah Bint Abdulrahman University. The cranio-dentofacial features of this syndrome can be diagnosed
by the dentist and these features can be unrecognised by the physician. The dentofacial features of the patient included a broad
forehead, down slanting palpebral fissure, flat base of the nose and low junction of the ears, prominent nasolabial folds, Class III
molar malocclusion, edge-to-edge bite, high arched palate, and congenitally missing teeth. The present patient was first diagnosed
by a dental professional and hence, this case report aims to present this syndrome from a dental viewpoint. The treatment plan was
to improve her oral hygiene, retain the deciduous tooth and space maintainer in the congenitally missing tooth to preserve space
for the future prosthodontic treatment.
