I. I N T R O D U C T I O N Congenital malformations of the breast and nipple-areolar complex are described from the aspect of neonatal dysmorphology. Their classification is based on the accepted nomenclature in the medical literature and on a special method of clinical examination. The embryology and the possible genes involved in breast development are also discussed to clarify the mechanisms underlying the occurrence of . Except for amastia, polymastia and polythelia, which have received much attention, the data for many other are sparse. Case control studies or even case series are rare, and good evidence is often lacking. In addition, more studies are needed to complete the map of genes involved in breast development. This information will contribute substantially to our understanding and clinical approach to in the future. A congenital malformation is a morphologic defect (error of morphogenesis) of an organ, part of an organ, or larger region of the body that is present at the time of birth and is the result of an intrinsically abnormal developmental process 1 ' 2 . That is, the abnormality is present already in the primordium, or the group of cells in the embryo
Journal of Pediatric Endocrinology and Metabolism – de Gruyter
Published: Apr 1, 2003
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