Ciliary chondrodysplasias represent a heterogenous group of rare, nearly exclusively autosomal recessively inherited developmental conditions. While the skeletal phenotype, mainly affecting limbs, ribs and sometimes the craniofacial skeleton, is predominant, extraskeletal disease affecting the kidneys, liver, heart, eyes and other organs and tissues is observed inconsistently. Significant letha...

Aneurysms associated with inherited connective tissue disorders (CTD) constitute a specific but important issue in thoracoabdominal aortic aneurysm (TAAA) surgery. In this respect, Marfan syndrome and Ehlers-Danlos syndrome (EDS) type IV represent the most significant disorders causing aneurysmal dilatation of the thoracic aorta. Marfan syndrome typically causes aortic root dilatation, aortic v...

The titanium rib procedure is a safe and effective way of surgically treating pediatric patients with thoracic insufficiency syndrome and scoliosis. As with any invasive surgical procedure, it is not without risks. This article explains the potential risks to neurological structures while outlining the surgical approach and the neurological anatomy in the vicinity of the implanted instrumentati...

triple a syndrome (allgrove syndrome) is a rare inherited autosomal recessive disease with a typical triad including adrenocorticotrophic-hormone-resistant glucocorticoid insufficiency, reduced or absent tearing (alacrima) and achalasia and a wide range of symptoms can be detected due to multi organ involvement. this report describes the case of a triple asyndrome, a12 year-old boy with a histo...

INTRODUCTION: PNonspecific aortoarteritis is a rare autoimmune disease with the involvement and narrowing of aorta its branches leading to ischemia respective arterial region. In territory Russian Federation, most common manifestation Takayasu nonspecific lesion aortic arch, which in cases leads development so called bald arch syndrome. response hypoxia, intersystemic collaterals are formed thr...

Cardiac disease is rare in patients with Reiter's syndrome. There have been 15 reported cases of aortic insufficiency in patients with Reiter's syndrome, with the aortic insufficiency developing over several years. This paper reports the case of a black HLA-B27 negative woman who presented with Reiter's syndrome and acute aortic insufficiency. An antecedent streptococcal infection is suggested ...

Antiphospholipid syndrome (APS) is a thrombophilic condition leading to multiple complications. Primary APS rarely causes primary adrenal insufficiency, but it can be life-threatening. In the present report, patient presents with symptoms and signs of insufficiency subsequent hormone level tests radiological findings led diagnosis insufficiency.