We describe a de novo apparently balanced reciprocal translocation t(6;12)(q16.2; q21.2) in an 18 month old girl with Shwachman syndrome, characterised by exocrine pancreatic insufficiency and bone marrow dysfunction. The cause of this syndrome is unknown, although autosomal recessive inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions fo...

We present a case of left ventricular pseudoaneurysm, which is a very rare and fatal complication of cardiac procedures such as mitral valve replacement. A 55-year-old woman presented to the Department of Thoracic and Cardiovascular Surgery at Hanyang University Seoul Hospital with chest pain. Ten years prior, the patient had undergone double valve replacement due to aortic regurgitation and mi...

The correct management, with the classic techniques, of the thoracic deformity in Poland's syndrome is difficult, with often insatisfactory results. The current surgical treatment involves the use of prothetic material and/or different flaps with their own complications and scares. The experience of our team with fat grafting (we named lipomodeling) in breast reconstruction helped us to propose...

Triple A syndrome (Allgrove syndrome) is an autosomal recessive disorder consisting of achalasia, alacrima and Addison insufficiency. We report an 11-year-old girl with predominant symptom of achalasia who was diagnosed as Triple A syndrome almost 3 years after initial presentation.

Polyglandular autoimmune syndrome type I is a rare disorder characterized by mucocutaneous candidiasis (MC), hypoparathyroidism (HP) and adrenal insufficiency , requiring regular follow up as the components of the syndrome appear at different age groups. We report a six and half year boy having this syndrome and presenting with MC, HP and ectodermal dystrophy.

Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal and cardiac defects. Pulmonary malformation is not reported to belong to the spectrum of this condition. We report a second case of a newborn with Holt-Oram syndrome who developed severe respiratory insufficiency shortly after birth. We discuss possible genetic links between abnormal pulmonary morphogenesis and Holt...

Ross syndrome is characterized by a triad of tonic pupil, areflexia and segmental hypohidrosis. Hypohidrosis may be accompanied by contralateral hyperhidrosis, probably due to a compensatory mechanism. We report a case of Ross syndrome with socially disabling left-sided hyperhidrosis. Sympathectomy of the second and third thoracic ganglia was performed with satisfactory results. With excellent ...

Hoarseness due to left recurrent laryngeal nerve paralysis was first described in 1897 by Norbert Ortner. Various cardiopulmonary and thoracic arch aorta pathologies associated with left recurrent laryngeal nerve palsy have been described over the last 100 years and is also known as cardio-vocal syndrome. We report our experience with seven cases of Ortners syndrome due to thoracic aortic aneur...