[Limb reduction defects in Asturias (1986-1997): prevalence and clinical presentation]

To determine the prevalence and clinical presentation of limb reduction defects in Asturias (Spain).

Among the 92300 newborns, stillbirths and induced abortions for congenital defects surveyed by the Registry of Congenital Defects in Asturias (population-based registry) during 1986-1997, we studied the children with limb reduction defects. Frequency is expressed as total prevalence per 10000 births.

Seventy-three children with limb reduction defects were identified, with a total prevalence of 8 per 10000 births (CI 6.2-9.8): upper limbs were affected in 65.7%, lower limbs in 23.3% and both upper and lower limbs were affected in 11%. Transverse terminal defects were present in 49.3%, and were intercalary in 16.4%, preaxial longitudinal in 8.2%, postaxial longitudinal in 9.6%, split hand/foot in 9.6% and multiple in 6.8%. Limb deficiencies were found in 52%; of these, 48% were associated with other congenital defects. Four had chromosomal anomalies and 20 were syndromes. 31% had low birth weight for their gestational age. Alcohol exposure during pregnancy was recorded in three mothers.

A detailed study of limb reduction defects could lead to a better understanding of clinical presentation and to an etio-pathogenic diagnosis to control risk factors.