Congenital limb anomalies: frequency and aetiological factors: Data from the Edinburgh Register of the Newborn (1964-68)

Abstract

This paper reports a detailed follow up of 156 patients with structural upper and lower limb anomalies, obtained from the Edinburgh Register of the Newborn (a registration of 52,029 consecutive births between 1964 and 1968). At the time of this survey the patients were between 4 and 9 years of age. The Register had noted probably 96% of all children born with limb defects in Edinburgh between 1964 and 1968. It was found that the diagnosis was completely accurate in only 26% of cases, and partially so in a further 42%. The frequency of each anomaly has been noted, subdivided into isolated anomalies; those that occurred with other limb anomalies, and those that formed part of a syndrome. Syndactyly of toes, post-axial polydactyly of the fingers, polysyndactyly, and brachydactyly were found to have a genetic basis. All `absence' defects, pre-axial polydactyly, and multiple limb deformities appeared to be sporadic. Amongst the sporadic group, the main aetiological factors noted were an excess of maternal toxaemia of pregnancy and of illegitimate children, when compared with the Register Control Data.