Congenital Malformations

  • Colin L. Berry


This chapter is primarily concerned with congenital abnormalities as defined by McKeown and Record (1960): “macroscopic abnormalities of structures attributable to faulty development and present at birth”. This definition excludes metabolic defects such as glycogen storage disease and the haemoglobinopathies; these abnormalities, which are caused by single genes of large effect, inherited according to Mendelian patterns, collectively account for less than 1% of human malformations and are not described in this account, although many are described elsewhere in the book. We shall consider here the larger groups of malformations and, in particular, the ways in which various epidemiological and other studies have contributed to knowledge of their pathogenesis. It should be emphasized that accurate pathological identification of malformation and malformation syndromes is an essential step in identifying aetiological factors, and one where the pathologist has a large part to play.


Congenital Heart Disease Congenital Malformation Patent Ductus Arteriosus Spina Bifida Neural Tube Defect 
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  • Colin L. Berry

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