Hanhart Syndrome is a rare genetic condition in which individuals present with characteristics that may include peromelia (malformed arms and legs), hypodactylia (partially absent fingers), a small jaw, and a partially developed tongue. The exact cause of this disorder is unknown, and there is very information available about it. Individuals who present with multiple limb loss face increased difficulty when being fit with prosthetic limbs.1
A 14-year-old Caucasian male presented with peromelia of all four limbs secondary to Hanhart syndrome type II. He did not present with any other characteristics secondary to the disorder. The patient was 32 inches tall and weighed 60 lb. His lower limbs were 11 cm and 12 cm from ischial tuberosity to distal end with 10- and 12-degree flexion contractures and abduction contractures in the right and left residual limbs. The limbs were bulbous with significant redundant tissue present and a limited range of motion (∼10–15 degrees of flexion). The right upper limb presents with a short transverse deficiency of the humerus with a single immobile digit at the distal end. The left upper limb presented with full range of motion of the shoulder and elbow joint, malformation of the wrist joint, and a single digit distally with limited mobility that only flexes and extends at the wrist joint.
The patient had never been fit for prosthetic limbs because his parents had been waiting until it was his choice. The patient had been told he was not a prosthetic candidate by several other prosthetic facilities. Upper-limb prostheses were not explored because the patient was able to perform activities of daily living independently. Without prosthetic limbs, he is able to play video games, type, draw, write, feed himself, drink from a cup, cut with scissors, assist in cooking, swim, and skateboard, to name a few. He is able to use his chin and right upper limb as an opposition post. The patient was able to ambulate by gliding or “walking” on the distal ends of the residual limbs in combination with his arm. He could also navigate stairs in this manner. In situations where this gliding was not possible, he used a manual wheelchair.
The patient's main limitations that he wished to overcome included being tall enough to reach light switches, countertops, and tables, sit in a standard chair comfortably, and not to use a wheelchair at school and in public places. Because of school regulations, he was not able to “scoot” on the floor at school and was forced to use a wheelchair.
The patient was cast and fit as a transfemoral amputee using silicone locking liners to enclose the soft tissue and a lanyard suspension system to make donning simple for his parents. The sockets consisted of an ischial containment design with a flexible inner socket and acrylic frame as seen in Figure 1. Custom foreshortened (stubby) feet were fabricated out of aluminum sheet and crepe. The sockets were initially set up as foreshortened prostheses (stubbies) in order for the patient to develop balance.2 Because of the difficult nature of fitting this patient, this also served as a prediction of the patient's ability to use full prosthetic limbs.
During the first fitting, the patient was able to stand up and take some steps in the parallel bars with minimal assistance. His balance was poor due to the foreshortened prosthetic feet being too small. With larger feet, the patient was able to ambulate independently in the parallel bars, and he took the prostheses in a test socket form home to practice. His parents had difficulty donning the sockets and the test sockets rotated on him because of their slick nature. However, this problem was solved by fabricating definitive sockets with the lanyard strap opening to the lateral side of the socket rather than the anterior and using a flexible inner socket that was less slick.
After 2 months of ambulating in foreshortened prostheses, with physical therapy, the patient was able to independently dance, ascend and descend his sloped driveway, and get back up independently if he fell. Because of the success with the foreshortened prostheses, the patient progressed to full prosthetic limbs with knees. The patient was predicted to have the ability to be a K3 ambulator with the assistance of microprocessor knees.3
As the patient was being fit as a bilateral short transfemoral patient, he was fit with Otto Bock C-Leg microprocessor knees to increase stability.3,4 These knees were used in conjunction with a low-profile Össur Flex-Walk system for energy return and assistance ambulating on uneven terrain as seen in Figures 2 and 3.5 The patient was able to ambulate in the parallel bars the first day and flex the knees on a limited basis. In order for him to be able to take the prostheses home and practice, the patient needed a custom assistive walking device to be fabricated as seen in Figure 4. A four-wheel walker was adjusted with an arm rest similar to a crutch for the transverse humeral deficiency and an elastic band for him to hook his single digit through for the right upper limb. This assists him in weight shifting and balance and provides additional stability. After a week, he was able to walk a neighborhood block using his assistive device in the prostheses.
The patient continues to have issues with perspiring in the liners even with antiperspirant. This is partially due to his limited surface area for cooling. He is working on progressing to ambulating without an aid. The patient needs assistance to don the prosthetic limbs at this point, but this is not an issue as he lives at home.
RESULTS AND DISCUSSION
Approximately 1 year later, the patient came in for socket replacements and is now learning to ambulate independently without walking aids. For the patient to become completely independent by being able to don the prosthetic limbs without assistance, a stand will need to be devised in the future. However, ambulation is the current priority as the patient has available assistance to don the limbs. He is able to doff them independently. The patient's supportive home environment has been vital to his continued success. The use of the prosthetic limbs is necessary for the patient to have the ability to be independent. There are also health benefits because the patient's hand and limbs often are scratched and bruised from “scooting” around. As he enters his teen years, there are psychological benefits from having the ability to look others in the eye while speaking.
The authors thank all the individuals at Prosthetic Orthotic Solutions International (a part of Physiotherapy Associates) for their support and assistance in this case study.
1.Hanhart Syndrome. National Institute of Health: Office of Rare Diseases Research. Available at: http://rarediseases.info.nih.gov/GARD/Condition/68/Hanhart_syndrome.aspx
. Accessed March 2009.
2.Carroll K, Richardson R. Improving outcomes for bilateral transfemoral amputees: a graduated approach to prosthetic success. The Academy Today
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3.Hafner BJ, Smith DG. Differences in function and safety between Medicare Functional Classification Level 2 and 3 transfemoral amputees and influence of prosthetic knee joint control. J Rehabil Res Dev
4.Blumentritt S, Braun J, Bellman M, Schmalz T. Indication for the C-leg knee joint system in prosthetic fittings for amputees with short transfemoral residual limbs. Medizinisch Orthopädische Technik
5.Alaranta H, Kinnunen A, Karkkainen M, et al. Practical benefits of Flex-Foot™ in below-knee amputees. J Prosthet Orthot