Pulmonary lymphangiectasis in Noonan syndrome

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Severe pulmonary hypertension in Ullrich-Noonan syndrome.

A 19 year old woman with Ullrich-Noonan syndrome presented with a six month history of progressive dyspnoea and cyanosis. Clinical features were suggestive of severe pulmonary hypertension. Cross sectional echocardiography showed pronounced right ventricular pressure overload with right ventricular hypertrophy. Cardiac catheterisation confirmed severe pulmonary hypertension. Attempts to reduce ...

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Chronic lymphangiectasis in Turner's syndrome.

A 3 1/2-year-old female presented with Turner's syndrome and Nonne-Milroy-Meige disease. Ocular findings included strabismus and bilateral chemosis which was unchanging and persisted throughout the four years the patient was followed up. Histopathological findings included diffuse lymphangiectasia and dense connective tissue surrounding the dilated lymph channels. Although the association betwe...

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Congenital pulmonary lymphangiectasis.

BACKGROUND Congenital pulmonary lymphangiectasis (CPL) characterized by dilatation of pulmonary lymphatic vessels occurs as a congenital anomaly. With poor prognosis, neonatal presentation of bilateral CPL is associated with the severe compromise of pulmonary gas exchange and high mortality. METHODS A male infant born at 39 weeks of gestation was found to have CPL. Cyanosis and cardiac arrest...

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Noonan syndrome.

Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.

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Noonan syndrome

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associa...

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ژورنال

عنوان ژورنال: American Journal of Roentgenology

سال: 1980

ISSN: 0361-803X,1546-3141

DOI: 10.2214/ajr.134.1.75