Limbreduction defects inEmilia Romagna, Italy: epidemiological andgenetic study in173109 consecutive births

Epidemiological andgenetic variables inlimb reduction defects (LRD)wereanalysed during the years 1978to1987inacasecontrol study inEmilia Romagna, northern Italy. During theobservation period, 83neonates outof173109consecutive births hadLRD (4-8per10000).Caseswere divided into five subgroups: transverse, intercalary, longitudinal, split, andmultiple types ofLRD.Of allcases, 64%wereupperlimb, 21%lowerlimb, and15%both. Coexisting non-limb malformations werefound in10cases (12%), five withrecognised syndromes andfive withother associated defects. About7-2%offirst degree relatives haddefects involving theskeletal system. Intwocasesthe motherhadthesametypeofLRD (asplit). No recurrence amongsibs wasobserved. Riskfactors correlated withLRD werefoundtobelowbirth weight (2500g orless), vaginal bleeding, and threatened abortion.