ASSOCIATED ANOMALIES IN CASES WITH LIMB REDUCTION DEFICIENCIES

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Health

Background:

• Infants with limb reduction deficiencies (LRD) frequently present with co-occurring congenital anomalies.
• Understanding the prevalence and types of these associated anomalies is crucial for comprehensive infant care.

Purpose of the Study:

• To determine the prevalence and spectrum of associated anomalies in infants diagnosed with limb reduction deficiencies (LRD).
• To identify common patterns and types of congenital malformations linked to LRD.

Main Methods:

• A 29-year population-based study of 387,067 births, identifying 317 infants with LRD.
• Inclusion of livebirths, stillbirths, and terminations of pregnancy.
• Geneticist examination of affected infants, ascertainment of elective terminations, and surveillance up to 2 years of age.

Main Results:

• A prevalence of 8.2 per 10,000 births for LRD was observed.
• 59.9% of infants with LRD had associated anomalies.
• Chromosomal abnormalities (8.5%) and recognized dysmorphic conditions (23.0%), including VACTERL association and Poland syndrome, were identified. Multiple congenital anomalies (MCA) were present in 28.4% of cases. Common affected systems included musculoskeletal, cardiac, urogenital, and central nervous systems.

Conclusions:

• More than half of infants with LRD exhibit associated congenital anomalies, underscoring the need for comprehensive evaluations.
• Routine screening for anomalies in the musculoskeletal, cardiovascular, urogenital, central nervous, and digestive systems should be considered for fetuses and infants with LRD.