BACKGROUND Maroteaux-Lamy syndrome is a lysosomal storage disease of mucopolysaccharide metabolism (MPS type VI) that may involve the mitral and aortic valves. Affected patients have other skeletal and oropharyngeal malformations that complicate anesthetic and surgical management. METHODS AND RESULTS The present report describes the clinical, echocardiographic, and pathological findings in fo...

Mucopolysaccharidoses (MPSs) are a group of metabolic diseases transmitted in an autosomal recessive fashion. MPSs are due to deficiencies of the specific enzymes responsible for the catabolism of dermatan sulfate, heparin sulfate, and keratan sulfate, resulting in the accumulation of glycosaminoglycans (GAGs). MPSs have a chronic, progressive course with multisystemic involvement. The incidenc...

In an effective lagrangian approach [1] to new physics, the authors in ref. [2] pushed tau anomalous magnetic and electric dipole moments (AMDM and EDM) down to 10−11 and 10−25 e cm by using a Fritzsch-Xing lepton mass matrix ansatz. In this note, we find that, in this approach, there exists the connection between τ AMDM and EDM and the lepton flavor mixing matrix. By using the current neutrino...

Pycnodysostosis (the Toulouse-Lautrec syndrome) is a rare autosomal-recessive disorder of osteoclast dysfunction. This disorder was first described by Maroteaux and Lamy in 1962. We describe anaesthetic management of a 35-year-old female having pyknodysostosis with fracture shaft left femur with anticipated difficult intubation. Therefore, spinal anesthesia was planned for her fracture fixation...

Three cats with feline arylsulfatase-B--deficient mucopolysaccharidosis were studied by light and transmission electron microscopy. Membrane-bound cytoplasmic inclusions were present in hepatocytes, bone marrow granulocytes, vascular smooth muscle cells, and fibroblasts in skin, cornea, and cardiac valves. Central nervous system lesions were restricted to mild ventricular dilatation, perithelia...

PYCNODYSOSTOSIS is a rare disease. Only thirty-three cases have appeared in the literature since 1923. The term pycnodysostosis (from the Greek pycnos I =dense, dus=defective and stosis=of bone) was tS U i{: ' ..........; coined by Maroteaux & Lamy in 1962 for an apparent j clinical entity which included micromelic dwarfism, increased radiological density of bone, dysplasia of the skull, atroph...

True achondroplasia is a well-delineated and distinct entity as familiar to the layman as it is to the members of the medical profession (Maroteaux and Lamy, 1964). In the past the designation was often assigned to a hotchpotch of entities such as Morquio's disease and spondylo-epiphysial dysplasia (McKusick, 1966; Maroteaux and Lamy, 1959; Jacobsen, 1939). It is considered to be due in all ins...