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Phocomelia with Humerus Buried within Soft Tissue of the Chest Wall
Kathryn Marie Watson, BS; AR Muzaffar , MD
Divison of Plastic Surgery, University of Missouri-Columbia, Columbia , MO

In this report, we describe a novel variant of longitudinal deficiency in which the humerus was buried within the tissues of the chest wall. Surgical treatment was performed to provide better function and to allow for subsequent fitting and use of a prosthesis. This case is unique in that an empty soft-tissue envelope intended for the humerus radiated out from the shoulder with no bone present, while the humerus was located within the subcutaneous tissue of the upper chest wall.
    An 8-month-old boy presented with hypoplasia of the left upper extremity. An empty soft tissue envelope extended from the left shoulder, creating a very shallow pseudo-axilla, and the humerus could be palpated within the soft tissue overlying the left chest wall. Since there was palpable movement of the buried humerus pre-operatively indicating the presence of functional muscle attachments, surgical treatment was planned to liberate the buried humerus and place it into the soft tissue envelope. This would allow the patient to actively flex, adduct and abduct the arm, thus improving function and leading to prosthesis use in the future. Through an incision along the medial aspect of the soft tissue envelope extending onto the chest wall, the humerus was dissected free, and a muscle slide was performed by dividing distal attachments of musculature along the length of the humerus. The humerus was elevated and placed into its intended soft tissue envelope and anchored distally with a button. A four-flap z-plasty was then performed to create an axilla of appropriate contour and depth.
    We report a unique example of upper-extremity longitudinal dysplasia. A number of clinical features suggested that reconstruction would be beneficial in this case: 1) the child’s ability to move the buried humerus; 2) a functional glenohumeral articulation, by clinical and radiographic examination; 3) the absence of osseous structures distal to the buried humerus (i.e. the skeletal element and its intended soft-tissue envelope were a good size match); and, 4) a supple soft tissue envelope for the humerus that would provide stable soft tissue coverage. Taking these factors into consideration, a surgical approach was devised to address the unique anatomical features in this patient to improve function and allow for future prosthesis use. Long-term follow up (45 months) has demonstrated that the patient has useful abduction, adduction and flexion of the left arm with stable soft-tissue coverage of the transferred humerus and a supple, anatomic-appearing axilla.


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