The anatomy of a congenitally short limb with clubfoot and ectrodactyly.
Previous studies have shown an association between an abnormal arterial pattern and bony malformations of the human lower limb. We have dissected and performed arteriography on a congenitally short limb with ectrodactyly in order to examine the relationship between arterial pattern and bony anomalies in another type of deformity. The bony anomalies were a combination of short femur, tibia and fibula, clubfoot with tarsal synostoses, metatarsal absence, ectrodactyly, and a bifid hallux. The arterial pattern was characterized by deficiency of the anterior tibial artery and absence of the plantar arch. Major muscular anomalies were noted in the foot only; the muscles of the missing toe were absent and any muscles that normally cross the midventral line were either missing or failed to cross the midline. The superficial peroneal nerve failed to enter the dorsum of the foot and its sensory distribution was assumed by an extra branch of the sural nerve. The most severe abnormalities of the bones, muscles, arteries, and nerves occurred near the midventral line of the foot. We hypothesize that the abnormal arterial pattern put the limb at risk of teratogenic damage by reducing the number of collateral blood supply routes. We suggest that some event, such as extravasation of blood or embolization, compromised the blood flow in the remaining blood vessels and that this event resulted in both a general shortening of the limb and the specific defects observed in the foot. We interpret the anatomy to be consistent with the vascular teratogenic event occurring near the midline of the foot during the fifth week of embryonic development.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000792:Angiography; D003025:Clubfoot / Q000473:pathology*; D005528:Foot / Q000098:blood supply / Q000294:innervation; D006801:Humans; D007866:Leg / Q000002:abnormalities* / Q000098:blood supply / Q000294:innervation; D008297:Male; D008684:Metatarsus / Q000002:abnormalities; D009132:Muscles / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities*