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Unilateral Agenesis or Amputation of Pelvis and Lower Limb

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see a young child with a single lower limb enjoying eating soup with a spoon. Her history is tragic – she was born with an agenesis of the left pelvic and lower extremity cartilage-skeletal elements and concurrent exstrophy of the urinary bladder.

PERSPECTIVE: This illustration demonstrates a “developmental field” defect not associated with impacts on other “developmental fields” (a synonym is morphogenetic field). Since this image, the patient grew normally and developed a keen intelligence (she is multi-lingual and was a high-achieving high school student).

Dr. John Opitz was the main proponent of the “field theory” of human development applicable to a rational basis for congenital malformations terminology. The theory underscores that the “field development” represents a spatially and temporally epi-morphic hierarchical synchronized process. The earlier the onset of disruptions, the greater the number of impacted developmental fields. This illustration is an example of a late onset disruption. Perhaps this instance is similar to other instances described as “amniotic band sequences”.

Reference: “Opitz JM. The Developmental Field Concept in Clinical Genetics. J Pediatr. 1982 Nov;101(5):805-9. PubMed PMID: 7131167”.