Quadricepsplasty in arthrogryposis (amyoplasia): long-term follow-up.
ABSTRACT Eight patients with arthrogryposis multiplex congenita (amyoplasia type) (11 knees) with knee hyperextension deformity underwent quadricepsplasty and were analyzed during an average follow-up period of 11 years and 2 months. The results were clinically analyzed based on gait pattern, range of movement, and orthotic requirements. Joint congruency was evaluated by radiography according to the Leveuf Pais classification. A satisfactory result was the correction of the deformity, articular congruency, sufficient range of movement, adequate gait pattern and no need for orthosis. A satisfactory outcome occurred in five of the eight patients (eight knees). We considered an unsatisfactory result when any of these conditions occurred. Our experience demonstrated that the quadricepsplasty corrected the hyperextension deformity of the knee joint, improved function, gait pattern, and maintained the muscle power of the quadriceps.
Article: Amyoplasia revisited.[Show abstract] [Hide abstract]
ABSTRACT: Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). It is a clinical diagnosis at this time. Care should be used making the diagnosis because of the implications for recurrence, natural history, associated anomalies, and both etiology and pathogenesis. We reviewed over 600 published reports and 2,500 individual records to identify the 560 individuals reported here. Affected limbs had characteristic positions with fatty-fibrous replacement of muscle. Upper limb involvement was usually characterized by extended elbows. Lower limbs were held in various positions at birth; however, equinovarus positioning of feet was almost always present. Symmetric involvement was common. Among 560 affected individuals, subtypes were identified: four-limb symmetric involvement (331/560 = 55.9%), severe involvement (41/560 = 7.3%), three-limb involvement (27/560 = 4.8%), upper limb only Amyoplasia (ULA; 94/560 = 16.8%), and lower limb only Amyoplasia (LLA; 25/560 = 15.5%). Discordant monozygotic twinning was increased, occurring in 6.6% (37/560; OR 10.9). A variety of additional anomalies were seen, attributed to apparent vascular compromise. Gastrointestinal vascular compromise-type anomalies were present in 9.1% (51/560), trunk muscle defects in another 2.7% (15/560), digit compromise in 12.1% (68/560), constriction rings in 4.3% (24/560), and perinatal long bone fractures in 10.5% (59/560). Although prenatal ultrasound became the standard of care in 1990, only about one quarter of affected pregnancies were diagnosed prenatally since 1990. Amyoplasia appears to be completely sporadic. Novel pathogenetic mechanisms for the congenital anomalies seen in Amyoplasia need to be identified. © 2014 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 01/2014; · 2.30 Impact Factor
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ABSTRACT: We encountered problems with the Curtis and Fisher technique of quadricepsplasty for congenital quadriceps contracture, including wound dehiscence, insufficient lengthening of the quadriceps and instability of the knee. We modified the operative technique to address these three problems. We undertook this study to evaluate the results of the modified technique of quadricepsplasty to determine if we succeeded in overcoming these limitations of the original technique. Twenty children (33 knees) underwent the modified Curtis and Fisher quadricepsplasty through a lateral incision; a long tongue of the rectus femoris was raised and the vasti mobilised without dividing the lateral retinaculae till the collateral ligaments. The children were followed up for a mean period of 63 months and evaluated. The healing of the wound, active and passive range of motion (ROM) of the knee, the stability of the knee, quadriceps power and knee function were assessed. Primary wound healing occurred in 32 of 33 knees. Adequate lengthening of the quadriceps sufficient to facilitate knee flexion to 90° was possible. Considerable improvement in the ROM was noted. In non-syndromic congenital dislocation of the knee (CDK), the quadriceps power was Grade 5, but minor degrees of extensor lag was noted. In a proportion of patients, minor degrees of joint instability was present. The majority of children were community walkers. The overall results were better in non-syndromic CDK than in children with arthrogryposis, but differences of some variables were not significant. The modifications to the original Curtis and Fisher technique overcame the specific problems they were expected to avoid.Journal of Children s Orthopaedics 10/2012; 6(5):397-410.
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ABSTRACT: Of individuals with Amyoplasia, 16.8% (94/560) involve only the upper limbs (Upper Limb Amyoplasia-ULA) and 15.2% (85/560) involve only the lower limbs (Lower Limb Amyoplasia-LLA). The accompanying paper deals with other forms of Amyoplasia [Hall et al., ] and discusses etiology. An excess of one of monozygotic (MZ) twins is seen in both groups (ULA 4/94 (4.3%), LLA 5/85 (5.9%)), gastrointestinal (GI) abnormalities thought to be of vascular origin (bowel atresia and gastroschisis) (ULA 16/94 (17%), LLA 4/85 (4.7%)), small or partial absence of digits (ULA 6/94 (6.2%), LLA 8/85 (9.4%)), and umbilical cord wrapping around the limbs at birth (ULA 3/94 (3.2%), LLA 7/85 (8.2%)) (severe enough to leave a permanent groove). Pregnancy complications occurred in 42/60 (70%) of ULA and 36/54 (67%) of LLA. Prenatal diagnosis, after ultrasound usage became routine, occurred in only 7/25 (28%) of ULA and 5/12 (12%) of LLA. This series may represent an over estimate of the complications and associations occurring in ULA and LLA. Differential diagnoses separating LLA from the genetic forms of "lower limb only" arthrogryposis and ULA from "upper limb only" genetic forms of arthrogryposis and Erb's palsy is provided. © 2014 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 01/2014; · 2.30 Impact Factor