The inspiration for this investigative work began during a 1975 fellowship at Great Ormond Street Hospital in London, where studies of children with congenital short limbs and fibular deficiency revealed unexpected deficiencies in the second and third metatarsals. Their midline absence contradicted the prevailing classification of fibular hemimelia, sparking a pivotal insight.

The following year, while at New England Baptist Hospital in Boston, further observations showed that up to 80% of children with proximal femoral focal deficiency (PFFD) also had fibular deficiencies. This correlation challenged existing understanding of limb formation. Classical embryologic descriptions of vascular development in Gray’s Anatomy aligned with radiographic patterns of long-bone deficiency, suggesting a vascular basis for these anomalies.

Subsequent research, including the review Embryonic Vascular Dysgenesis: The Origin of Proximal Femoral Focal Deficiency in Birth Defects Research, posited that PFFD represents the most proximal expression of a broader syndrome of Congenitally Shortened Limbs (CSL), encompassing deficiencies of the femur, fibula, and midline metatarsals. This constellation corresponds to time-dependent failures in the embryonic ingrowth of blood vessels to the developing limb.

Earlier foundational work included a 1980 JBJS paper, Vascular Dysgenesis Associated with Skeletal Dysplasia of the Lower Limb, which demonstrated abnormal arterial patterns in patients with fibular deficiencies. More recently, the 2020 Anatomical Record article, Congenital Fibular Dystrophisms Conform to Embryonic Arterial Dysgenesis, reinforced the role of disrupted vascular pathways in shaping these skeletal malformations.

The overarching principle is that the templates for long bones exist before limb outgrowth and their development depends on adequate vascular supply. Malformations of the femur, fibula, and metatarsals follow the dystrophic “trace fossil” pathways left by incomplete embryonic arteries.

A key point for orthopaedic surgeons is the recognition that congenital limb deficiencies reflect intrinsic vascular limitations. Thus, surgical attempts at lengthening congenitally shortened limbs must account for the biologic constraints imposed by absent or malformed blood vessels.