Approach of the newborn with birth defects

Approximately 3 % of newborn infants present with minor or major defects fo r which the pediatrician's advice is required. The diagnosis approach of a dysmorphic syndrome at birth relies upon a systematic four-step evaluations including: 1) family history; 2) information on the perinatal history; 3) complete physical examination with careful description of the morphological anomalies; 4) oriented imaging, laboratory and/or cytogenetic investigatio ns. In many cases the regrouping of the different information will lead to the diagnosis of a precise malformation syndrome. However the etiological d iagnosis may also be difficult at birth and will necessitate a regular foll ow up in order to take into account the evolution of the defects and the oc currence of additional clinical signs. (C) 2001 Editions scientifiques et m edicales Elsevier SAS.