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[Limb reduction defects in Asturias (1986-1997): prevalence and clinical presentation]
I Riaño Galán1, J Fernández Toral, E García López
1Servicio de Pediatría de Hospital Narcea, Cangas del Narcea, Grupo de trabajo del Registro de Defectos Congénitos de Asturias. isogalan@teleline.es
Insights
Limb reduction defects occurred in 8 per 10,000 births in Asturias, Spain. Most affected upper limbs and often presented with other congenital anomalies, highlighting the need for etio-pathogenic diagnosis.
Area of Science:
- Medical Genetics
- Developmental Biology
- Epidemiology
Context:
- Limb reduction defects (LRDs) are congenital anomalies with significant impact on affected individuals.
- Understanding the prevalence and clinical spectrum of LRDs is crucial for public health initiatives.
- Population-based registries are essential for accurate epidemiological surveillance of birth defects.
Purpose:
- To determine the prevalence and clinical presentation of limb reduction defects in Asturias, Spain.
- To provide epidemiological data on LRDs in a defined geographical area.
- To identify patterns and associations of LRDs for further etio-pathogenic research.
Summary:
- A population-based study in Asturias (1986-1997) identified 73 children with LRDs, yielding a prevalence of 8 per 10,000 births.
- Upper limb defects were most common (65.7%), followed by lower limb (23.3%). Transverse terminal defects predominated (49.3%).
- Over half (52%) of LRD cases had associated congenital defects, including chromosomal anomalies and syndromes. Low birth weight and maternal alcohol exposure were also noted.
Impact:
- This study provides valuable epidemiological data on LRDs in Spain, contributing to a better understanding of their occurrence.
- The detailed clinical presentation data can aid in the etio-pathogenic diagnosis of LRDs.
- Identifying risk factors and associated conditions can inform prevention strategies and improve clinical management of limb reduction defects.
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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