We report on 4 patients with the campomelic syndrome (CS) in whom postmortem angiog raphy of the lower limbs was performed. Of the 4 patients, 3 were phenotypic females (2 of them with a 46,XY karyotype) and one was a male with a normal 46,XY karyotype. Three fulfilled the criteria of CS, and one (phenotypically female with a 46,XY karyotype) lacked the lower limb bowing and the talipes equinovarus typical of CS. This infant may constitute a further example of the recently reported CS without campomelia.
The results of the angiographic study are compared with 46 postmortem angiographies of normal fetuses and newborn infants at different gestational ages. In the first 3 CS patients the main arterial axis of the lower limb, formed by the superficial femoral and anterior tibial arteries, had smaller diameters than expected while the profunda femoris and posterior tibial arteries had greater diameters than age-matched controls. However, the most striking abnormality was the absence or marked deficiency of the anterior tibial artery. Its terminal branch, the dorsalis pedis artery, was also absent and the plantar arch was abnormally formed by the posterior tibial artery either alone or in conjunction with the peroneal artery. The normal arterial pattern was found in the patient who lacked bowed bones. This finding supports a developmental association between vascular defects and lower limb anomalies in CS.
This aberrant arterial pattern in CS may affect or be affected by muscle development.
The shortness of the posterior femoral and calf muscles fix the knee and the ankle joints. Bone bowing is probably related to the abnormal mechanical forces applied to the developing long bones of the lower limb.