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  • Title: [Limb reduction defects in Asturias (1986-1997): prevalence and clinical presentation].
    Author: Riaño Galán I, Fernández Toral J, García López E, Moro Bayón C, Mosquera Tenreiro C, Rodríguez Fernández A, Suárez Menéndez E, Ariza Hevia F, Franganillo Fernández A.
    Journal: An Esp Pediatr; 2000 Apr; 52(4):362-8. PubMed ID: 11003927.
    Abstract:
    AIM: To determine the prevalence and clinical presentation of limb reduction defects in Asturias (Spain). PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
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