نتایج جستجو برای: beckwith wiedimann syndrome
تعداد نتایج: 622113 فیلتر نتایج به سال:
Beckwith-Wiedemann Syndrome (BWS) is associated with early development of embryonal tumours usually in the first four years of life. We describe a patient who presented with a right adrenal cyst in the first month of life and hepatoblastoma in the third month of life. A cavernous haemangioma was subsequently found in the resected tumour.
Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi. This condition may resemble a partial hydatidiform mole and may occur associated with Beckwith-Wiedemann syndrome (BWS) or in phenotypically normal fetuses. There were 110 cases reported so far. We describe one case with typical gross and m...
A pair of monozygous twins discordant for Wiedemann-Beckwith syndrome is described and published reports reviewed to establish the mode of inheritance. Single gene control seems unlikely and it is proposed that the condition arises from the interaction of "at risk" genes in the fetus and metabolic factors in the mother, which suggests multifactorial control.
Aim It was previously reported that several patients with pseudohypoparathyroidism type 1b (PHP-1b) have a more generalised imprinting defect. However there was no report that a patient of PHP-1a has any generalised imprinting defects. Here we aim to report a case of PHP-1a with hypomethylation at the Kv-differentially methylated region (DMR) (11p15.5), responsible for Beckwith-Wiedemann syndrome.
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