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Associated malformations in patients with limb reduction deficiencies.
Claude Stoll1, Yves Alembik, Beatrice Dott
1Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France. claude.stoll@medecine.u-strasbg.fr
European Journal of Medical Genetics
|July 31, 2010
Summary
Over half of infants with limb reduction deficiencies (LRD) have associated malformations, including chromosomal abnormalities and dysmorphic conditions. Thorough investigation and screening for conditions like heart and central nervous system defects are crucial for affected infants.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Limb reduction deficiencies (LRD) are congenital conditions often accompanied by other malformations.
- Understanding the prevalence and types of these associated malformations is critical for comprehensive patient care.
Purpose of the Study:
- To assess the prevalence and types of congenital malformations associated with limb reduction deficiencies (LRD) in a defined population.
- To highlight the need for thorough investigation in infants diagnosed with LRD.
Main Methods:
- A 25-year population-based study of 347,810 births, identifying 271 infants with LRD.
- Inclusion of livebirths, stillbirths, and elective terminations, with geneticist examination and follow-up until 1 year of age.
Main Results:
- The prevalence of LRD was 7.8 per 10,000 births, with 57.9% of affected infants having associated malformations.
- Associated conditions included chromosomal abnormalities (6.3%), recognized dysmorphic syndromes (22.9%), and multiple non-syndromic malformations (28.8%).
- Most common system malformations were cardiac (11.4%), genital (9.4%), and central nervous system (7.7%).
Conclusions:
- More than half of infants with LRD present with associated malformations, underscoring the need for comprehensive evaluation.
- Routine screening for cardiac, urogenital, central nervous system, and digestive system malformations is recommended for infants and fetuses with LRD.
