Unusual cardiovascular manifestations of noonan syndrome

Cardiovascular disease in Noonan syndrome.

BACKGROUND Noonan syndrome (NS), a relatively common autosomal dominant disorder with an incidence of 1 in 1000 to 2500 live births, is the most common syndromic cause of congenital heart disease after Trisomy 21. OBJECTIVE To comprehensively define the spectrum of cardiac morphology and specific clinical course of a large cohort of NS patients. DESIGN Retrospective, descriptive case series...

Tegumentary manifestations of Noonan and Noonan-related syndromes

OBJECTIVES Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndromes and to detail certain aspects of the molecular mechanisms underlying ectodermal involvement. ...

Unusual manifestations of the antiphospholipid syndrome.

The classical clinical picture of the antiphospholipid syndrome (APS) is characterized by venous and arterial thromboses, fetal losses and thrombocytopenia, in the presence of antiphospholipid antibodies (aPL), namely lupus anticoagulant (LA), anticardiolipin antibodies (aCL), or antibodies to the protein "cofactor" b2 glycoprotein I. Single vessel involvement or multiple vascular occlusions ma...

Unusual manifestations of the Peutz-Jeghers syndrome.

Incomplete Behçet's syndrome with unusual manifestations.

We report a case of incomplete Behçet's syndrome with two major criteria plus interstitial pneumonia. The patient had also hypoplastic bone marrow and disseminated intravascular coagulation developed during the terminal stage.