Cases reported "Syndrome"

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1/48. Painless aortic dissection presenting as hoarseness of voice: cardiovocal syndrome: Ortner's syndrome.

    Most of the neurological manifestations of the aortic dissection are due to neuronal ischemia secondary to either extension of the dissection process into a branch artery, or compression of an artery by the false lumen of the dissecting aortic hematoma. However, the enlarging false lumen may directly compress on an adjacent nerve, causing neuronal injury resulting in neurological symptoms. This may particularly take place when a distal intimal tear does not decompress the false lumen, resulting in formation of an expanding blind pouch. About 10% of aortic dissections are painless and may present with symptoms secondary to the complications of the dissection. Although cardiovocal syndrome, or Ortner's syndrome (hoarseness of voice due to involvement of recurrent laryngeal nerve in cardiovascular diseases) has been described with aortic dissection, it has not been reported as an initial presenting feature of this disorder. This report describes the first case of painless aortic dissection presenting with hoarseness of voice, the cardiovocal syndrome. The hoarseness remained the only symptom throughout the entire course of the disease. The aortic dissection was not suspected initially. During surgical exploration, the recurrent laryngeal nerve was found compressed by the false lumen at the level of aortic arch. Aortic root replacement was performed successfully, resulting in complete resolution of the hoarseness. The neurological manifestations of aortic dissection, and the cardiovocal syndrome, are discussed.
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2/48. Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia.

    The proband, a 53-year-old man, developed progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 50. His father had weakness of lower limbs, and his son had a nasal voice, ocular movement abnormalities, and gynecomastia, whereas two of the proband's brothers showed either gynecomastia or tongue fasciculations. None of the patients showed any expansion of CAG repeat in the androgen receptor gene or any hormonal abnormality. Thus, this family is affected by a form of autosomal dominant spinal and bulbar muscular atrophy with gynecomastia.
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3/48. Ortner's syndrome in association with mitral valve prolapse.

    The case of an 83-year-old woman with a history of hypertension, valvular heart disease, atrial fibrillation, and cardiomegaly is presented. The patient also had progressive hoarseness of her voice and intermittent dysphagia. Ear, nose, and throat examination revealed left vocal cord paralysis. echocardiography revealed severely dilated left (LA) and right atria (RA), moderate mitral regurgitation, severe tricuspid regurgitation, and prolapse of both these valves. A review of literature of Ortner's or cardiovocal syndrome is presented. Ortner's syndrome due to mitral valve prolapse has not been reported previously.
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4/48. Foreign Accent Syndrome following a catastrophic second injury: MRI correlates, linguistic and voice pattern analyses.

    A case study of Foreign Accent Syndrome (FAS) is presented with discussion of anatomical localization of injury and comparisons of pre- and postinjury linguistic, phonetic, and acoustic speech characteristics. Because the patient's injury and symptoms were unrelated to previously injured left frontal cortex, and in light of another case history (Moonis et al., 1996), we suggest that FAS has a primary subcortical involvement. We also show that this case is accompanied by a deficit in linguistic, but not affective, prosodic expression. We agree that the "foreign" quality of the FAS speech is a perceptual impression of the listener and not inherent in the patient's vocalization. Finally, we suggest a battery of tests for future FAS cases to further our study and understanding of the syndrome.
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5/48. A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.

    Although a family history is described in approximately 20% of patients, large families with adult-onset craniocervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 19-40 yrs). The phenotype was characterized by adult-onset cranio-cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio-cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes.
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6/48. uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.

    We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome.
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7/48. A novel syndrome involving primary skeletal growth and retardation in siblings.

    An identical pattern of malformations was found in two brothers both having microcephaly and severe developmental delay. Additionally, they had hypotelorism, epicanthic folds, and convergent strabismus. There was shortening of either the radius or the tibia and shortening of the first metacarpals. Persistently dorsally flexed fingers and toes were noted, all of which are unusually long. Both boys had a high-pitched voice and were unable to communicate verbally at the age of 4.5 years. They both developed short stature. One brother has anal atresia; the other had a pulmonary artery atresia, VSD, ASD, and an over-riding aorta. This apparently new syndrome is possibly an autosomal, or a X-linked recessive trait.
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8/48. Otorhinolaringologic manifestation of smith-magenis syndrome.

    smith-magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome link to a contiguous-gene deletion syndrome, involving chromosome 1 7p 11.2,whose incidence is estimated to be 1:25,000 livebirth. SMS is characterised by a specific physical, behavioural and developmental pattern. The main clinical features consist of a broad flat midface with brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse deep voice and peripheral neuropathy. Behavioural abnormalities include hypermotility, self-mutilation and sleep disturbance. This report defines the otorhinolaryngological aspects of a new case of SMS, confirmed by cytogenetic-molecular analysis, in a 9 year old girl affected by chronic otitis media, deafness and sinusitis, who presented with typical clinical signs and symptoms.
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keywords = voice
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9/48. CT findings associated with Eagle syndrome.

    Eagle syndrome is an aggregate of symptoms caused by an elongated ossified styloid process, the cause of which remains unclear. This is a rare finding that often goes undetected in the absence of radiographic studies. In this case, we present the diagnostic CT and lateral view plain film radiography findings of a 39-year-old woman with clinical evidence of Eagle syndrome. Eagle syndrome can occur unilaterally or bilaterally and most frequently results in symptoms of dysphagia, headache, pain on rotation of the neck, pain on extension of the tongue, change in voice, and a sensation of hypersalivation (1, 2). We present rare and diagnostic radiographic evidence of this on both plain film radiographs and CT scans. Although well documented in otolaryngology literature and dentistry literature, this syndrome has not been reported in the radiology literature.
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10/48. Preserved neurobehavioral abilities in Lujan-Fryns syndrome.

    We present a patient with all the physical characteristics of Lujan-Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem-solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that Lujan-Fryns syndrome can be associated with partial preservation of neurobehavioral abilities.
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