Obstetric and gynecologic considerations of dwarfism.
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Achondroplasia↗
Biomedical subjects
C I Scott
Publications and source records attributed to C I Scott.
Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
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Carbohydrate Metabolism, Inborn Errors↗
Atlantoaxial instability in mucopolysaccharidosis type VII.
We report a 15-year-old boy with mucopolysaccharidosis (MPS) Type VII (Sly disease) who was found to have atlantoaxial instability with quadriparesis. Subluxation of C1 on C2 has also been documented in patients with Type I and Type IV MPS. Routine screening of the cervical spine is recommended in patients with "MPS Type VII" so that delayed diagnosis of instability, which may lead to neurologic compromise, is avoided.
Adolescent↗
Avascular necrosis of the hip in multiple epiphyseal dysplasia.
We observed radiographic changes of avascular necrosis (AVN) of the capital femoral epiphysis in 9 hips of 11 patients with multiple epiphyseal dysplasia (MED). Plain roentgenography, bone scintigraphy, and magnetic resonance imaging (MRI) studies all revealed characteristic asymmetric changes in the presence of AVN superimposed on dysplastic femoral heads.
Child↗
Orthopaedic manifestations in de Barsy syndrome.
de Barsy syndrome is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, growth retardation, mental retardation, and characteristic facies. Affected individuals have many orthopaedic manifestations, including developmental dysplasia of the hip, scoliosis, multiple joint dislocations and subluxations, and congenital vertical talus. The management of the orthopaedic manifestations of this syndrome is presented in two typical cases.
Bone Diseases↗
Achondroplastic and hypochondroplastic dwarfism.
To ensure proper management, prognosis and genetic counseling among patients with chondrodystrophy a specific diagnosis is critical. Achondroplasia is the most common intrinsic bone dysplasia which results in short-limbed dwarfism. Because of its frequency, it is the most completely documented and understood of these conditions. Emphasis has been given to the various characteristics which allow an exact diagnosis to be made. Hypochondroplasia can be misdiagnosed unless attention is paid to the many differences which distinguish it as a separated disorder. Some ten other conditions must be considered in the differential diagnosis of these conditions.
Achondroplasia↗