Fraser syndrome in three consecutive siblings
نویسندگان
چکیده
منابع مشابه
APPARENT MINERALOCORTICOID EXCESS IN THREE SIBLINGS
Three siblings (1 boy, 2 girls) with hypertension and hypokalemia are presented, two with low plasma aldosterone and suppressed renin activity and the eldest with a high renin and aldosterone level due to secondary changes in her kidneys. Urinary tetrahydrocortisol (THF) was increased relative to tetrahydrocortisone (THE). Cortisol ring A reduction constant was also lower than normal. Thes...
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Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). RMSA, ...
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The skin is one of the target organs that are most often involved in food hypersensitivity reactions. Clinical manifestations of food hypersensitivity in the skin range from symptoms of atopic dermatitis, urticaria, angioedema to dermatitis herpetiformis, and a masquerader of food allergy, the Frey’s syndrome. All present with typical skin manifestations of their foodallergic reactions. Three c...
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Two brothers and one sister had three variants of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome (the 'TTP-HUS' complex). The sister had a chronic fatal variant of thrombotic thrombocytopenic purpura with severe neurological manifestation. One brother had a chronic relapsing disease but the kidneys were not affected, and the other brother had haemolytic uraemic syndrome. Th...
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ژورنال
عنوان ژورنال: Oman Journal of Ophthalmology
سال: 2011
ISSN: 0974-620X
DOI: 10.4103/0974-620x.83661