✍ Scribed by Spranger, Stephanie; Spranger, Matthias; Tasman, Abel-Jan; Reith, Wolfgang; Voigtländer, Theda; Voigtländer, Volker
No coin nor oath required. For personal study only.
Among the lipodystrophies, the Barraquer-Simons syndrome is a rare condition. We describe a 27-year-old woman with progressive loss of subcutaneous fat after 15 years first affecting the face and spreading to the upper part of the body. She also suffered from deafness and had marked changes in cranial MRI. We discuss possible differential diagnosis such as the Cockayne,
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Comment of Drs. Rouch, Opitz, and Walker on our case report of "Syndromic Foramina
A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition ''HDR syndrome.'' We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chr
We describe a previously unrecognized syndrome in two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation.
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