Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome
نویسندگان
چکیده
منابع مشابه
Beckwith-Wiedemann syndrome.
some llp15.3-.pter and monosomic for chromosome 5p15.3-.pter (karyotype 46,XY,der(5)t(5;ll)(pl5.3;pl5.3)pat). Paternally derived duplications of llpl5.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for llpl5.5 had prenatal overgrowth (birth weights >97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of ...
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BeckwithWiedemann syndrome, characterized by the triad of omphalocele, macroglossia, and gigantism, has a population incidence estimated at 1/13,700. This is likely an underestimate, because individuals with milder phenotypes may not be diagnosed. Some cases of isolated hemihyperplasia may, in fact, represent BeckwithWiedemann syndrome with reduced expressivity. Additional clinical features of ...
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ژورنال
عنوان ژورنال: Pathology & Oncology Research
سال: 2000
ISSN: 1219-4956
DOI: 10.1007/bf03187335