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Updated: May 30, 2026

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
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A case of severe dysmelia of all extremities

Jozef Visnovsky1, Kamil Biringer, Karol Dokus

  • 1Department of Obstetrics and Gynecology, Comenius University, Jessenius Medical Faculty, Martin, Slovakia.

Fetal and Pediatric Pathology
|August 26, 2011
PubMed

A group of limb reduction defects is defined by congenital absence of either part of limbs. We report an extremely rare case of symmetrical upper limb peromelia (absence of distal bones) and asymmetrical lower limb phocomelia (absence of long bones and a flipper-like appearance of feet) in a female fetus at the 20th week of pregnancy. No other malformations were identified. The prevalence of peromelia and phocomelia is extremely rare, and these malformations can be associated with some candidate genes (e.g. de novo apparently balanced reciprocal translocation 46,XX,t(2;12)(p25.1;q24.1)).

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