A NewTRPV3Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia
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Dextrocardia and Hiatal Hernia in a Patient with Turner Syndrome
Turner syndrome is a sex-chromosome disorder occurring in one out of 2500 female births and characterized by growth retardation, gonadal dysgenesis and cardiovascular anomalies. The 45, XO karyotype is the most frequent type of this disease. Herein, we report on a 6-year-old girl with Turner syndrome and 45, XO karyotype presenting with short stature. She had dextrocardia and hiatal hernia. To ...
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1. Subhadarshani S, Singh A, Ramteke PP, Verma KK. Idiopathic eruptive macular pigmentation in an Indian male. Indian Dermatol Online J 2018;8:367‐70. 2. Joshi R. Idiopathic eruptive macular pigmentation with papillomatosis: Report of nine cases. Indian J Dermatol Venereol Leprol 2007;73:402‐5. 3. Joshi R, Palwade PK. Idiopathic eruptive macular pigmentation or acanthosis nigricans? Indian J De...
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Introduction: Evaluation of persistent vertigo in post infarct patients is very important as the management depends on whether the cause is purely of central origin or due to associated vestibular affliction. Case Report: A patient with left sided dorsolateral medullary syndrome and persistent vestibular symptoms was evaluated. Vestibular test battery showed abnormal smooth pursuit, bilateral...
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Sagliker syndrome is a rare form of renal osteodystrophy resulted from untreated secondary hyperparathyroidism. It is described by severe skeletal deformities, high level of PTH in patients with chronic renal failure, and deformed face. This paper reports a 44-year-old male patient with the mentioned characteristics. In addition to the unique clinical features, high levels of ALP and PTH hormon...
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ژورنال
عنوان ژورنال: JAMA Dermatology
سال: 2014
ISSN: 2168-6068
DOI: 10.1001/jamadermatol.2013.8709