camptomelic dysplasia (cmd) is a rare autosomal dominant congenital dwarfism characterized by shortness and bowing of long bones (camptomelia) and other severe skeletal and extra skeletal malformations. cmd is generally considered to be lethal and the majority of cases die in the neonatal period due to respiratory insufficiency. we hereunder report a term male neonate with characteristic clinic...

BACKGROUND/AIM Chronic respiratory insufficiency is a pathological state which occurs as a result of respiratory system inability to maintain normal gas exchange between the outside air and circulating blood. For the purposes of human organism's proper functioning, it is necessary that a certain amount of air in the lungs comes into contact with a certain amount of blood within a unit of time, ...

BACKGROUND Respiratory and renal insufficiencies are common dysfunctions during post-liver transplantation period that increase post-operative mortality and morbidity rates. Intra-operative fluid therapy is an important factor associated with pulmonary and renal insufficiency. OBJECTIVE To evaluate the relation between intra-operative fluid therapy and early renal and respiratory insufficienc...

Pycnodysostosis (PDO) is a rare genetic disorder characterized by cathepsin K deficiency which plays an important role in bone metabolism. Among clinical features of this disease which are mainly caused by altered bone remodeling are craniofacial abnormalities such as hypoplastic maxilla and obtuse gonial angle which consequently lead to respiratory insufficiency in forms of pharyngeal narrowin...

OBJECTIVE To assess the extent and severity of respiratory insufficiency associated with severe rheumatoid atlantoaxial dislocation and its relation to compression of the neuraxis. METHODS Twelve patients with severe atlantoaxial dislocation due to rheumatoid disease were studied. Detailed clinical, CT myelography and respiratory assessment including nocturnal oximetry, were performed on all ...

Twenty-nine patients with a neuronopathic or neuropathic disorder were referred for assessment of respiratory insufficiency between 1978 and 1994. Diagnoses included spinal muscular atrophy (6), chronic idiopathic demyelinating neuropathy (4), Vialetto-van Laere syndrome (3), hereditary motor and sensory neuropathy (3) and a miscellaneous group (5). We also describe seven patients with Guillain...