The author presents his experience with 43 Apert Syndrome patients at a single center. Apert Syndrome occurs in 1/65,000 live births and is characterized by symmetric upper and lower extremity complex syndactyly coupled with craniofacial dysostosis. The sydrome is due to a chromosomal abnormality on the 10q chromosome controlling fibroblast growth factor receptor 2. Traditional methods of reconstruction have focused on staged syndactyly releases, typically separating border digits first and the thumb webspace, with many surgeons preferring to salvage a thumb and three fingers by leaving the central ¾ digital syndactyly untreated, or by selective amputations. Ten-fingered hands have usually been created by multiple releases over several years. The feet have typically been treated only rarely. In this paper the author presents his philosophy and technique of reconstruction, utilizing staged four-extremity finger and toe releases, achieving release of all ten fingers in only two stages, beginning at 9-12 months, with the two stages three months apart. Late reconstructions were then performed between 9 and 12 years of age with osteotomies of the fused proximal and middle phalanges to duplicate normal relaxed PIP joint flexion. The thumbs were treated at the later stage with opening wedge osteotomies and bone grafting to correct the typical radial clinodactyly. Toe defects were treated simultaneously with digital releases, and often partial ostectomies/osteotomies. Forty-two of 43 patients were successfully reconstructed with 10 fingers and 10 toes. No amputations were necessary.
This paper describes a unique and very successful approach to reconstructing Apert Syndrome extremity defects. The approach is aggressive, with multiple four-extremity reconstructions, but also serves to minimize the number of operations these children require to achieve reconstruction of all 10 digits. Both the hands and the feet were treated equally, which is unusual. The author emphasizes the impact of foot reconstruction on body image, although the functional implications are far less significant than the hand deformities. The more widely used zig-zag incisions and long dorsal web space flap are abandoned for straight insicions, closed primarily over 1/3 to 1/2 the length of the digits, with less area needed for full-thickness skin grafting. Open areas in the distal midaxial plane, including areas of exposed phalangeal bone, are left to heal secondarily. No functional contractures were reported, and all wounds healed without the need for further surgery. It is emphasized that an experienced anesthesia team and surgical assistants are required to accomplish the more extensive four-extremity operations without undo morbidity. Osteotomies are employed as a late stage reconstruction to solve the difficult problems encountered with the untreated proximal/middle phalangeal complex without an intervening PIP joint. The results appear to offer improved cosmetic results, although functional improvement is hard to gauge in this study, as no functional parameters were assessed. For a properly trained surgical team, with appropriate anesthesia, nursing, and parental support, this strategy appears to offer excellent results with fewer operations than the more traditional approach. Its limitations are largely those of resources, and as such will limit this strategy to larger centers, where the majority of Apert patients are treated.
Plastic & Reconstructive Surgery