TREATMENT OF BILATERAL KNEE FLEXION CONTRACTURES IN A CHILD WITH ROBERTS' SYNDROME
Robert D. Lipschutz, CP, BSME Lea A. Lew, CPO Mark Romness, MD
A 12+8 year old male presented to Limb Enhancement Clinic at Connecticut Children's Medical Center with quadrimembral deficiencies secondary to Roberts' syndrome. In addition to his bilateral lower extremity deficiencies, he presented with a 48 and 86 knee flexion contracture on the left and right legs respectively. He required new lower limb prostheses secondary to growth and discussion also arose regarding treatment of these severe knee flexion contractures. This child is quite unstable on his prostheses, has very low stamina, and non-cosmetic prostheses. The options discussed were prosthetic fitting alone or in conjunction with contracture reducing management, soft tissue releases combined with external fixators, or knee disarticulation amputations. The method of treatment at this time was the use of passive contracture reducing mechanisms applying three point force system principles and fitting of new transtibial prostheses. The prostheses were made alignable to allow for future changes to be performed in order to compensate for the reduction of the flexion contractures. Difficulties arose in assessing the contractures, reducing the contractures, fitting, and alignment.
Roberts' Syndrome is a rare genetic disorder with many levels of malformations. Almost as numerous as the varying degrees of deformities is the list of pseudonyms, synonyms, and classifications. As described by John B. Roberts at the 1919 Philadelphia Academy of Surgery, this disorder is characterized by "double cleft of the lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities."1 This somewhat vague description has contributed to the controversy over diagnosis of infants with "Roberts' Syndrome". Children with similar anomalies were described prior to Roberts' discussion in 1919. Such was the case in 1671 when Bouchard presented the earliest description of "a child with tetraphocomelia, cleft lip, and reduced number of fingers and toes."2 The list of synonyms and/or related disorders continues to grow. Presently I have found six including: tetraphocomelia/cleft lip and palate syndrome; SC-phocomelia; pseudothalidomide or SC-Syndrome; TAR (thrombocytopenia-absent radius) Syndrome; Hypo-melia-Hypotrechosis-Facial Hemangioma Syndrome; and Appelt-Gerhen-Lenz Syndrome.
Attempts to put children into classifications also continue. These various classification systems differentiate either by manifestations or severity, which often conclude with the dilemma of whether they are different or the same anomaly. The most similar diagnoses to Roberts' syndrome exist in the SC-phocomelia cases. As was stated before, there are many varying degrees of "Roberts' Syndrome"; however, according to Freeman, et. al., distinguishing characteristics reported in greater than 75% of the cases (including those described by Roberts) are: "(1) tetraphocomelia as a result of missing or deformed bones of both the upper and lower extremities; (2) cleft lip (bilateral) and palate, with protrusion of the intermaxillary portion of the upper jaw; (3) ectrodactyly, with smaller than normal number of fingers and malposition of the thumb; (4) syndactyly of the digits.. ."3 More specifically, Van den Berg and Francke concluded that as far as the extremities involved, the upper limbs were more severely affected than the lower and that although there were cases of upper limb without lower limb involvement, there were no cases (that were reviewed) of lower limb without upper limb involvement.4 Flexion contractures of the knees, ankles, wrists, or elbows were also reported in greater than one half of the cases.5
Although less important to this paper, but worth mentioning, are the craniofacial and internal malformations. Craniofacial deformations vary from no clefting of the lip or palate to large facial cleft-ing involving the palantine maxillar and zygomatic bones and encephalocele; exothalmos due to shallow orbits and hypertelorism secondary to widely spaced orbits, cloudy cornea, wide nasal bridge,telecanthus and hypoplastic nasal alae, and associated hemangiomata. Internal abnormalities-reported include heart abnormalities, polycystic and fuses ("horshoe") kidneys, and enlarged phallus or clitoris.6 The latter is scrutinized because of the overall reduced size of the infants. Freeman, et. al. reported low birth weight (less than 2.2kg)7
The gentleman, U.H. involved in this case report was 12+8 years old when he first presented to Limb Enhancement Clinic at Connecticut Children's Medical Center. His diagnosis was Roberts' Syndrome with associated upper and lower limb involvement, as well as craniofacial deformities. He was wearing bilateral lower extremity prostheses that were fabricated for him in the United Kingdom approximately nine months previous to his initial visit. The original intent of the clinic visit was to have the team assess the present status of U.H.'s limbs and prostheses, and to discuss possibilities to increase his performance. The discussion focused on the treatment of his severe bilateral knee flexion contractures and their possible treatment. Several options arose including continued prosthetic fitting alone, prosthetic fitting in conjunction with contracture reduction management, surgical corrections with the aid of external fixators, and knee disarticulation amputations.
It was at this point where the Joint Active System (JAS-Knee™ ) used for static progressive stretch was introduced to U.H. and his mother. The JAS-Knee™ literature states that it "helps restore full range of motion with short treatment times, reduced discomfort, and a more permanent stretch to soft tissue."7 This is the choice that U.H. and his mother decided to pursue along with refitting of "transtibial prostheses" because of discomfort and skin breakdown secondary to growth. Since the JAS-Knee™ was a rental item, we were minimally involved in the fitting and utilization of this contracture reducing device.
Flexion contractures of 80Right and 55Left were measured at U.H.'s initial visit to our office. He was recorded when he performed active extension and when his knees were passively extended, as well as ambulating in his present prostheses. His legs were internally rotated bilaterally and an apparent severe right external knee valgus moment was present. Due to the internal rotation of the femur, the external moment was both a valgus and flexion moment. It was also noted that U.H. tired very easily having to sit or lean against the wall frequently. Subsequent visits included fittings i.e., test socket; dynamic alignment; as well as continued assessment of active and passive ROM. For consistency, the same person performed these assessments each time and it appeared that his ROM had increased as illustrated in the following table:
|Date||Active Ext. -R in degrees||Passive Ext. -R in degrees||Active Ext. -R in degrees||Passive Ext. -L in degrees|
There was, however, difficulty in assessing the "actual" degree of knee flex contracture secondary to the anterior translation of tibia with respect to the femur. There appeared to be a laxity or absence in the ACL.
The process for completing the prostheses was prolonged because of the anticipated reductions in knee flexion contractures while the knee flexion contractures continued to be addressed. The reason for this was that although successfully accomplished once, it is very difficult to remove the covers to change alignment and replace them. The alignment was set up to encourage an external knee extension moment rather than an external knee flexion moment. This was done by allowing initial contact (I.C.) bilaterally to occur at the forefoot vs. the heel. As the flexion contracture decreased, the alignment changes continued to be made to the extent that following one visit where this was performed, the child complained of uncomfortable stretching in his popliteal region. The socket flexion was then slightly increased.
U.H. walked much better at the time of delivery of the definitive prostheses than he did on his old prostheses. The definitive prostheses consisted of endoskele-tal construction, supracondylar suspension via medium density PElite inserts, "bent-knee" alignment, alignable, multiaxial ankles, dynamic response feet and custom leather covers. Growth was accommodated for and the external knee valgus/ flexion moment on his right knee was greatly decreased. Although these changes were beneficial for these two tasks, it is still unclear as to how to project future outcomes with transtibial prostheses of this design. This child continues to grow, gain weight, and become exhausted more easily using these prostheses. The unanswered questions continue to be:
How beneficial are these transtibial prosthetic designs?
Would he benefit from corrective surgery either decreasing the contractures or knee disarticulation amputations?
Would these surgeries impact his energy expenditure?
What about a powered wheelchair for decreasing unnecessary energy expenditure?
It is the hope of the author and the clinic team of Connecticut Children's Medical Center that other experts in the field of pediatrics could offer some insight to a positive resolution of this challenging case.
Connecticut Children's Medical Center, Hartford, CT
Connecticut Children's Medical Center, Hartford, CT
Connecticut Children's Medical Center, Hartford, CT
l,2,3Freeman M., et. al., The Roberts syndrome, Clinical Genetics 1974, 5:1-16 4,5,6 Van Den Berg, D. J., Francke, U., American Journal of Medical Genetics 1993, 47:1104-1123 7Joint Active Systems™, Division of Bonutti Research, Inc., 1303 Evergreen, Effingham, IL 62401 Herrmann, J., Opitz, J.M., The SC Phocomelia and the Roberts Syndrome: Nosologic Aspects*, European Journal of Pediatrics 1977, 125:117-134 Waldenmaier, C, et. al., The Roberts' Syndrome, Human Genetics 1978, 40:345-349 National Organization for Rare Disorders, Inc.(NORD), P.O.Box 8923 New Fairfield, CT 06912-8923
Chris Rockiki, Technician, Newington Orthotic and Prosthetic Systems