نتایج جستجو برای: hemihypertrophy
تعداد نتایج: 154 فیلتر نتایج به سال:
We present a male infant with cranial hemi-hypertrophy, a lymphangioma, a lipoma, and epidermal naevi. A diagnosis of Proteus syndrome was made. His father had had a large lymphangioma resected from the right side of the face as a child. We propose that Proteus syndrome has been transmitted from father to son.
Studies on the loss of heterozygosity (LOH) in human malignancies have shown that a number of different chromosomal regions associated with putative tumor suppressor genes may be involved in any one given tumor. We have carried out a similar study on Wilms' tumor using a range of DNA markers for a number of tumor suppressor regions. We tested a total of 44 \\ ilms" tumors including material fro...
BACKGROUND Congenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith-Wiedemann syndrome (BWS), the underlying mechanism is not known. METHODS We characterised the clinical features of children with both HI and BWS/11p overgrowth spectrum, evaluated the contribution of KATP channel mutations to the molecu...
This 12-year-old girl was transferred from an outside hospital for treatment of pneumonia. She had been well until 7 days before admission, when she developed what was felt to be cellulitis of her left lower extremity. She was given intravenous clindamycin, and the swelling and erythema improved. However, the following day, she started having respiratory distress, and she was found to have an i...
Klippel Trenaunay Weber syndrome (KTWS) is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV) malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pa...
Although cancer in children is rare, it is the second most common cause of childhood mortality in developed countries. It often presents with nonspecific symptoms similar to those of benign conditions, leading to delays in the diagnosis and initiation of appropriate treatment. Primary care physicians should have a raised index of suspicion and explore the possibility of cancer in children who h...
Alias: Angio-osteohypertophy syndrome Note: Various disorders with varying combination of limb hypertrophy, vascular lymphatic malformation and other features like naevi include Klippel Trenaunay syndrome (KTS), Sturge Weber syndrome, Proteus syndrome and isolated hemihypertrophy are clinically distinct entities and need to be approp-riately diagnosed. Inheritance: Most cases of KTW syndrome ar...
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