1/8. Unilateral pulmonary agenesis with ipsilateral musculoskeletal anomalies.A young patient with right pulmonary agenesis is described. She presented with left pneumonitis and improved with antibiotic therapy. She additionally had absence of right thumb and reduced muscle mass over right side of face. The anomalies may have resulted from an antenatal insult around the fourth week of embryonic development.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
2/8. Simultaneous occurrence of a thyromediastinal muscle, a truncus bicaroticobrachialis, and a left superior vena cava.A case is presented of a combination of anatomical anomalies found in a 67-year-old female cadaver during routine dissection by medical students. They include a thyromediastinal muscle, a truncus bicaroticobrachialis, and a left superior vena cava, with complete absence of the right superior vena cava, but with a normal azygos vein opening into the right atrium at the expected site of entry of the superior vena cava. No associated congenital cardiac malformations were found. Clinical implications include the difficulty of heart catheterization through the subclavian veins and misleading images on CT or MRI scans, where the azygos vein could be mistaken for a right superior vena cava.- - - - - - - - - - ranking = 5keywords = muscle (Clic here for more details about this article) |
3/8. Familial restrictive cardiomyopathy with skeletal abnormalities.A family is described in which 5 of 9 living children were found to have restrictive cardiomyopathy associated with skeletal muscle and orthopedic abnormalities. In the absence of another identifiable etiology, a genetic cause for restrictive cardiomyopathy in this family is probable. Consistent with the poor prognosis encountered for children with restrictive cardiomyopathy, 2 children in this family died, whereas a third was symptomatic by age 3 years.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
4/8. Bilateral symptomatic supernumerary muscle belly syndrome.A 32-year-old woman with a longstanding history of bilateral forearm pain had been unable to open her fingers and use her left arm (treated as reflex sympathetic dystrophy) since the age of 14. On physical examination there was fullness and tenderness of the distal volar forearms bilaterally; the quadriga test (when the patient was asked to make a tight fist quickly, with one finger fully extended passively) elicited burning pain. Operation confirmed that she had anomalous reversed forearm muscles bilaterally, and these were successfully resected.- - - - - - - - - - ranking = 5keywords = muscle (Clic here for more details about this article) |
5/8. torticollis in an infant caused by hereditary muscle aplasia.torticollis is a common condition presenting to the general or pediatric orthopedist. We describe the case of a child with severe torticollis caused by a hereditary unilateral absence of the sternocleidomastoid and trapezius muscles. Both his father and paternal grandfather had a forme fruste, with similar but milder findings. electromyography and cross-sectional imaging were valuable in making the diagnosis. We believe this is the first reported case of hereditary unilateral muscle aplasia presenting as torticollis in an infant.- - - - - - - - - - ranking = 6keywords = muscle (Clic here for more details about this article) |
6/8. Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes.We describe an infant with cerebro-oculo-facio-skeletal manifestations, radiologic and pathologic findings of osteopetrosis, and severe myopathic degeneration proven on histopathologic study of muscles. The muscle changes appear to be part of the pathogenetic process in this syndrome and the cause of the flexion contractures present at birth. Real-time ultrasonography may prove a useful tool in prenatal diagnosis of this syndrome.- - - - - - - - - - ranking = 2keywords = muscle (Clic here for more details about this article) |
7/8. mobius syndrome: electrophysiologic studies in seven cases.mobius syndrome is characterized by congenital facial diplegia, frequent impairment of gaze, variable involvement of other cranial muscles, and various musculoskeletal anomalies. The site of dysfunction remains debatable. We performed detailed electrophysiologic studies in 5 children and 2 adults with mobius syndrome to better delineate the pathophysiology of this disorder. Sensory and motor conduction studies were normal in the extremities. Facial compound muscle action potential amplitudes were reduced in all patients. The blink reflex R1 responses were unobtainable unilaterally in 2 patients and unobtainable bilaterally in 3 patients. Otherwise, R1 and R2 latencies were variably prolonged. The jaw jerk and masseter silent periods, tested in 2 patients, were normal. Detailed electromyographic studies of facial muscles revealed multifocal, chronic neurogenic changes. The findings indicate a brain stem process predominantly affecting the facial nuclei and their internuclear connections rather than a supranuclear or muscular site of involvement.- - - - - - - - - - ranking = 3keywords = muscle (Clic here for more details about this article) |
8/8. "cataplexy" and muscle ultrasound abnormalities in coffin-lowry syndrome.The coffin-lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital features. We have observed an unusual, non-epileptic, cataplexy-like phenomenon in three subjects with the syndrome and we speculate that this feature may go unrecognised. We also provide evidence of neuromuscular dysfunction as part of the phenotype by showing abnormalities on muscle ultrasound in four gene carriers.- - - - - - - - - - ranking = 5keywords = muscle (Clic here for more details about this article) |