The Central African journal of medicine · 1993
Beckwith-Wiedemann syndrome in Bulawayo, Zimbabwe.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Wolf B H, Ikeogu M O
Аннотация
Beckwith-Wiedemann syndrome is an easily recognised syndrome in its complete form with macroglossia and exomphalos. The three cases reported here are an attempt to increase awareness of the existence of this syndrome which has serious consequences. All our patients had the combination of macroglossia and exomphalos, but none developed symptomatic hypoglycaemia. Growth patterns were distinctly different in all cases. One patient was the first of a pair of twins. The syndrome is inherited in an autosomal dominant fashion with incomplete penetrance and variable expressivity. Early diagnosis should alert the clinician to the risk of eventual neonatal hypoglycaemia and long term follow up is warranted because of a possible development of malignancies in childhood. The reason for the very low incidence of the syndrome in Bulawayo remains unexplained.