1/4. Sonographic prenatal diagnosis of heterozygous achondroplasia: a case report.A case of heterozygous achondroplasia diagnosed prenatally by sonographic examination at third trimester, demonstrating a large head, frontal bossing, low nasal bridge, shortening of the long bones (rhizomelic form), was presented and confirmed by neonatal physical examination and radiograph. Sonography has become the most sensitive and accurate method for detection of this abnormality. It displays the fetal biometry without distortion and permits accurate prenatal diagnosis. However, the prenatal diagnosis of this abnormality is very difficult until the third trimester of pregnancy.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/4. achondroplasia: pre- and postsurgical considerations for midface advancement.achondroplasia, the most common type of dwarfism, involves several physical characteristics that can cause pre- and intraoperative respiratory problems. The characteristics include rib-cage deformities, midface hypoplasia, choanal stenosis, muscular hypotonia, foramen magnum compression, and cervical abnormalities. Specific pre- and postoperative strategies for dealing with achondroplastic dwarfs are discussed.- - - - - - - - - - ranking = 0.059656516469104keywords = physical (Clic here for more details about this article) |
3/4. Spinal cord injury rehabilitation in a pediatric achondroplastic patient: case report.achondroplasia is an autosomal dominant condition that occurs in approximately 1 of 25,000 births. It has long been associated with neurologic morbidity and mortality in adults, but more recently it has been increasingly identified in children. Neurological sequelae of achondroplasia includes spinal stenosis, spinal cord compression at the foramen magnum (which can result in fatal acute craniocervical junction compression), hydrocephalus, radiculopathy, paresis, and abnormal spinal curvature. We report the case of a 12-year-old achondroplastic patient who incurred an apparently nontraumatic cervical spinal cord infarction, with resultant quadriplegia, with no apparent cause, which was complicated by impaired tolerance of temperature changes and hypercalcemia of immobilization. Whereas persons with achondroplasia have many of the same physical and functional impairments from spinal cord injury as other SCI patients, they are more likely to experience certain types of neurologic deficits and are more subject to other problems because of their altered body habitus.- - - - - - - - - - ranking = 0.059656516469104keywords = physical (Clic here for more details about this article) |
4/4. Neurological symptoms in achondroplastic dwarfs--surgical treatment.Fourteen patients who had neurological symptoms associated with achondroplastic dwarfism and who had spine surgery were analyzed, as were an additional twenty-nine cases reported in the literature. Four types of neurological patterns emerged, based on the onset, symptoms, and physical examination. Some etiological correlation between the anatomical lesion and the result was made in each category, and a reliable prognosis related to the pattern is now possible. Early and appropriately extensive surgery may well be recommended, based on the patients treated.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |