نتایج جستجو برای: jarcho
تعداد نتایج: 230 فیلتر نتایج به سال:
In 3 infants, severe airways obstruction was caused by mediastinal lesions which were not evident on the antero-posterior chest radiograph. Their presence was demonstrated by barium swallow examination. Each infant had thoracotomy carried out urgently. Duplication cysts (without associated cervicodorsal vertebral anomalies) were present in 2 patients and neuroblastoma in the third.
Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia, auricular, ocular and vertebral anomalies. In many cases, this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies. Herewith, we prese...
Cervical dysraphism is rare, and the 3 recognized subtypes manifest as cystic, skin-covered masses. To our knowledge, no case of cervical lipomyelocele has been reported in the literature so far. We present a case of surgically and pathologically confirmed cervical lipomyelocele in a patient with spondylocostal dysostosis and multiple other congenital anomalies and a brief review of the literat...
OBJECTIVE Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. METHODS We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele CONCLUSION First trimester diagnosis of sire...
the symptoms of today’s disease can help scientist to take a diagnostic approach toward those of the ancient times. the knowledge of the survey of disease in the ancient times is called pathology. ancient pathology focuses on the source, evolution and progression of diseases in the human groups in history. in the nineteenth and early twentieth centuries, a lot of precise and detailed descriptiv...
Mediastinal enteric cysts are a rare occurrence among adults and are usually asymptomatic. In most cases they are an incidental finding in the right hemi-mediastinum and are associated with vertebral anomalies. We report the unusual case of a 23 year old male who had a mediastinal mass on chest X-ray as an incidental finding. Chest Computed Tomography (CT) scan revealed no vertebral anomalies a...
By ELSIE \V. HOUSTON, STEPHAN E. RITZMANN AND WILLIAM C. LEVIN B OTTURA ET AL.’ and German et al.,2 in 1961, described a unique chromosomal abnormality in a patient with primary macroglobulinemia (Waldenstr#{246}m ). Similar findings have subsequently been reported in 11 patients.3’9 Two types of abnormal chromosomes have been recognized: a metacentric larger than any other in the cell2 and a s...
Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondyloc...
Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare dise...
Sirenomelia is a very rare anomaly presented with fusion of the lower limbs. Genitourinary, neural tube, and vertebral anomalies are found in most cases. We report a case of sirenomelia with agenesis of corpus callosum, which has not been reported previously.
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