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Klinefelter Syndrome and Turner Syndrome
Pediatrics In Review, 20211. Carole Samango-Sprouse, EdD*,†,‡ 2. Sophia Q. Song, BA‡ 3. Angela E. Lin, MD§ 4. Cynthia M. Powell, MD¶ 5. Andrea L. Gropman, MD*,** 1. *George Washington University, Washington, DC 2. †Florida International University, Miami, FL 3. ‡Department of Research, The Focus Foundation, Davidsonville, MD 4.
Carole, Samango-Sprouse +4 more
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Bartter Syndrome and Gitelman Syndrome
Pediatric Clinics of North America, 2019Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic with incidental diagnosis. Hypokalemic hypochloremic metabolic alkalosis is the common feature. Bartter variants may be associated with polyuria and weakness.
Rosanna, Fulchiero, Patricia, Seo-Mayer
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Annals of Otology, Rhinology & Laryngology, 1993
Although 5% of all cases of congenital deafness are caused by Pendred's syndrome, there are few reports in the literature. Seven patients with Pendred's syndrome in three families living in the same village were detected. For that reason, the syndrome is reviewed in light of the literature.
DOGAN, Mustafa +4 more
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Although 5% of all cases of congenital deafness are caused by Pendred's syndrome, there are few reports in the literature. Seven patients with Pendred's syndrome in three families living in the same village were detected. For that reason, the syndrome is reviewed in light of the literature.
DOGAN, Mustafa +4 more
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The Hemolytic-Uremic Syndrome Is a Syndrome
New England Journal of Medicine, 1978The article in this week's issue of the Journal by Koster and his colleagues raises important questions not only about the pathogenesis of the hemolytic-uremic syndrome but, perhaps more importantl...
B S, Kaplan, K N, Drummond
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Current Opinion in Rheumatology, 1995
Sjögren's syndrome is a chronic autoimmune disorder of the exocrine glands with associated lymphocytic infiltrates of the affected glands. Dryness of the mouth and eyes results from involvement of the salivary and lacrimal glands. The accessibility of these glands to biopsy enables study of the molecular biology of a tissue-specific autoimmune process.
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Sjögren's syndrome is a chronic autoimmune disorder of the exocrine glands with associated lymphocytic infiltrates of the affected glands. Dryness of the mouth and eyes results from involvement of the salivary and lacrimal glands. The accessibility of these glands to biopsy enables study of the molecular biology of a tissue-specific autoimmune process.
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Moebius Syndrome in Kallmann Syndrome
Archives of Neurology, 1975A girl born with congenital paresis of cranial nerves III, IV, and VII (Moeblus syndrome) subsequently developed a progressive peripheral neuropathy. There was suggestive evidence of a familial neuropathy with autosomal dominant inheritance in three family members. The patient also had hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome).
A E, Rubinstein +3 more
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Déjérine's syndrome or Spiller's syndrome?
Neurological Sciences, 2001We report the difference existing between two clinical syndromes: Spiller's syndrome is caused by a complete involvement of the medial hemimedulla, while Déjérine's syndrome is determined by lesions restricted to the anterior portion of the medial hemimedulla and is characterized by hypoglossal nerve palsy and contralateral hemiparesis.
Pergami P. +4 more
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