22 research outputs found

    Case report: Antenatal MRI diagnosis of cloacal dysgenesis syndrome

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    Cloacal dysgenesis sequence (CDS) is a lethal malformation with a highly variable presentation. CDS is characterized by direct communication between the gastrointestinal, urinary, and genital structures, resulting in a single perineal opening. Prenatal diagnosis of a cloacal anomaly is often difficult because of the highly variable imaging features. Here, we report a case in which a diagnosis of CDS was made with fetal MRI on the basis of a meconium-containing, bilobed, abdominopelvic cystic mass communicating with the ureters and the colon

    Congenital salivary fistula of accessory parotid gland: imaging findings

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    The Deformed Spine in the Newborn

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    Metabolic bone disease as a presenting manifestation of primary Sjögren's syndrome: Three cases and review of literature

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    Primary Sjögren's syndrome (pSS) is a chronic autoimmune disease characterized by a progressive lymphocytic infiltration of the exocrine glands with varying degrees of systemic involvement. Chronic inflammation compromises the glands’ function that leads to dry symptoms in the mouth/eyes. Renal involvement is a well recognized extraglandular manifestation of pSS. Metabolic bone disease (MBD), however, rarely occurs as the primary manifestation of a renal tubule disorder due to pSS. To the best of our knowledge there are only 6 reported cases of metabolic bone disease as the primary manifestation of pSS to date. Four of these had distal renal tubular acidosis (RTA), and 2 had a combined picture of distal and proximal tubular dysfunction. We herein present our experience of 3 cases who presented to us with a clinical picture suggestive of MBD. While investigating these patients, we found evidence of RTA, which was found to be secondary to pSS
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