Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_777_Библиотеки_им_академика_М_И_Перельмана

syndromic condition. This is the case in which the newborn shows multiple congenital defects, clear dysmorphic features, abnormal birth auxo­logical parameters, and/or abnormal neurologic status. In these cases, the question is whether it’s possible to perform a “gestaltic diagnosis” or not. More often the hand anomaly seems at rst glance to be an isolated problem. In this context, it’s important to perform a proper clinical and instrumental evaluation, in order to search for possible associated major malformations, func­tional defects (e.g., audiological or visual de­ciency), and dysmorphic minor anomalies. Family and pregnancy history is essential too in order to better classify the problem. It’s well known the existence of an isolated hand defects which can have a mendelian segregation mostly according to autosomal dominant inheritance (e.g., pre- and postaxial polydactyly, triphalan­geal thumb, and ectrodactyly). In addition, some genetic syndromes (like Pfeiffer syndrome, for example) have a dominant transmission too. It’s always important to consider that in some situa­tions the variability of expression of the disease and the absence of intellectual involvement can have prevented the recognition of the disease in a relative. For all these reasons, a three generations genealogic tree should always be performed and direct parents’ evaluation could be useful, in order to deeply evaluate possible familiar patho­logical traits that can be crucial for the classica­tion of the proband’s defect.