Ізольована амелія нижньої кінцівки
ORPHA:294969· ICD-10 Q72.0· Isolated amelia of lower limb
Визначення(English summary)
A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.