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The clinical features in a 10-year-old girl with distal arthrogryposis, ectodermal dysplasia and a dilated cardiomyopathy are presented. Review of the relevant literature has not revealed any other similar report. Parental consanguinity points to autosomal recessive inheritance.
We report a family with distal arthrogryposis and cleft palate which demonstrates the clinical overlap between Gordon syndrome and Aase-Smith syndrome. The two syndromes may represent a single clinical entity.
The involvement of the upper limb in arthrogryposis multiplex congenita for many patients means a far-reaching dependency on outside help. The extension contracture of the elbow joint especially makes it impossible to reach the mouth or to perform hygienic necessities. Therefore, the rehabilitation program includes an improvement of passive elbow flexion by capsulotomy or of active flexion by triceps transfer if possible, or both. In bilateral involvement, the optimal solution is to have one arm in flexion for reaching the head and mouth passively or even actively and one arm in extension for hygienic necessities. From 1973 to 1993 we performed 22 releases of the elbow contracture in 16 children. An additional triceps transfer was performed in five elbows. The overall results showed a marked increase of the range of motion and a functional improvement concerning the daily activities (in 17 children). In 5 children there was no gain but also no loss of functional capacities. In 3 of 5 children with an additional triceps transfer, an improvement of active flexion was attained. Pre- and postoperative physiotherapy is at least as important as the operative procedure itself.
We describe the management of significant knee deformity in 44 knees of 22 patients suffering from classical arthrogryposis multiplex congenita (amyoplasia congenita). Follow-up ranged from a minimum of 18 months to 19 years 3 months, with an average 7 years 8 months. Thirteen patients showed fixed flexion of the knees at birth and 9 showed fixed extension. All were treated initially by physiotherapy and splintage, which was successful in all except 1 patient in the extended-knee group, whereas only 7 to 26 knees responded to physiotherapy and splintage alone in the flexed-knee group. Walking ability in the extended-knee group was high; 8 of 9 were community walkers with or without walking aids and orthoses and only one was a therapeutic walker. By contrast, in the flexed-knee group, despite posterior release surgery, which sometimes had to be repeated, only to 6 of 13 patients were community walkers at follow-up, 2 were household walkers, 3 were therapeutic walkers, and 2 had stopped walking in adolescence and preferred to use a wheelchair full time. Long-term splintage is recommended but does not always prevent recurrence of deformity. Bony surgery was used only toward the end of growth or in one case when very severe deformity necessitated its use at an early age and it subsequently had to be repeated. Despite their severe handicap and multiple deformities, this group of children show a remarkable determination to walk with or without walking aids and orthoses.
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.
Thirty-six patients with arthrogryposis have been followed at The James Lawrence Kernan Hospital of Baltimore since 1951. In this group, nine patients sustained 16 perinatal fractures. Femoral shaft fractures and epiphyseal separations were found more commonly in patients with fixed knee extension or dislocated hips and were related to relative stiffness and obstructed delivery. Femoral fractures were more common than humeral or tibial fractures. Arthrogrypotic infants displaying irritability and poor feeding are suspect of skeletal trauma. Thickening of limbs or joints may be the only clinical indication of fracture of epiphyseal injury. Plain radiographs of joints were inadequate for the diagnosis of epiphyseal separation when the epiphysis was not yet ossified. Arthrography is therefore recommended as a primary diagnostic tool.
Eighteen patients (28 feet) with spina bifida and arthrogryposis had talectomy for correction of severe equinovarus deformity. In 26 feet, posteromedial release had been performed previously. The average age at surgery was 4 1/2 years, with a range of 1-9 years of age. The length of follow-up averaged 4 years and ranged from 12 months to 8 years. Twenty-three feet were rated good, and five were poor. Six feet, because of forefoot adduction, required further surgery (metatarsal osteotomy). Talectomy is an effective procedure for correction of hindfoot deformity. Forefoot problems must be treated as a separate entity.
A previously undescribed anomaly of the distal femur occurred in a 3-month-old child with arthrogryposis multiplex congenita. There was a large boss of bone superior and posterior to the true lateral femoral condyle with which the lateral tibial femoral condyle articulated. To obtain full extension of the knee, it was necessary to perform a full posterior release and to replace the tibial condyle distally onto the true lateral condyle. The etiology of the anomaly remains conjectural, but the lesion should be sought for in patients with resistant flexion contracture requiring surgical release.
Foot deformities are common in arthrogryposis multiplex congenita. In this group of 52 patients with this diagnosis, 43 had foot deformities. The involvement was bilateral in all cases, and the most common type of deformity was talipes equinovarus (72 feet). The primary treatment in 52 of these patients was operative. Brockmann's procedure was the preferred method during the earlier years and posteromedial or posteromedioplantar release since 1974. Recurrences of the deformity are common; 36 operative procedures were done in 15 feet for recurrence of talipes equinovarus. The primary operative treatment should be extensive enough to correct all components of the deformity. Knee and hip deformity will often influence the outcome. Knee deformities especially cause problems in retaining the desired position of the feet. Talectomy and bone decancellations both seem to be effective in treating recurrences.
We report the chromosomal assignment of 18 porcine genes to human homologues using the INRA-Minnesota swine radiation hybrid panel (IMpRH). These genes (CACNA1C, COL2A1, CPNE8, C3F, C12ORF4, DDX11, GDF11, HOXC8, KCNA1, MDS028, TMEM106C, NR4A1, PHB2, PRICKLE1, Q6ZUQ4, SCN8A, TUBA8 and USP18) are located on porcine chromosome 5 (SSC5) and represent positional and functional candidates for arthrogryposis multiplex congenita (AMC), which maps to SSC5. CPNE8, PRICKLE1, Q6ZUQ4 and TUBA8 were mapped to the interval for pig AMC between microsatellites SW152 and SW904. Three SNPs in TUBA8 co-segregated with the AMC phenotype in 230 pigs of our research population without recombination and could be used as a genetic marker test for AMC. In addition, we provide evidence that a small chromosomal region of HSA22q11.2 evolutionarily corresponds to SSC5q12-q22 (and contains the human homologues of porcine SW152, Q6ZUQ4, TUBA8 and USP18), while the regions flanking HSA22q11.2 on SSC5 correspond to HSA12p13 and HSA12q12. We identified seven distinct chromosomal blocks, further supporting extensive rearrangements between genes on HSA12 and HSA22 in the AMC region on SSC5.
Twenty-one cases of arthrogryposis multiplex congenita, which had resulted in death soon after birth or had been aborted following prenatal diagnosis, were studied. Histochemical and histological study of muscle indicated that 11 cases were of myogenic origin, including congenital muscular dystrophy in 10 cases from six families and nemaline rod myopathy in one. Neurogenic causation was established in five cases, including three with intra-uterine anoxic-ischaemic damage and two siblings with a severe form of cerebro-ocular-facio-skeletal syndrome. Causation remained uncertain in five. Unusual features included atrophy or amyoplasia of the diaphragm associated with lung hypoplasia in 10 cases and evidence of birth trauma in seven cases. One pair of siblings had subcutaneous tissue of doughy consistency and another pair had bladder hypertrophy. Familial recurrence was seen most often in cases with evidence of myogenic origin. We consider that neuropathology and muscle histochemistry are essential aids in determining the risks of recurrence in this group of lethal conditions which defy analysis by syndrome recognition techniques.
A father and daughter with arthrogryposis multiplex congenita and similar dermatoglyphic patterns are described. No evidence was found of chromosomal abnormality, neuropathy or myopathy, and there were no other affected family members. The findings are compatible with autosomal dominant inheritance.
In a study of 350 patients with multiple congenital contractures (arthrogryposis), 80 (23%) patients had mental retardation or were developmentally delayed. Out of that group of 80 patients, 13 (16%) were found to have abnormal karyotypes. Two of the thirteen had a family history of chromosomal abnormalities without congenital contractures, therefore, 11 patients had chromosomal anomalies which appeared to be associated with the congenital contractures. Five of the eleven (45%) had chromosome mosaicism, three of those had tissue mosaicism. Two had abnormal skin fibroblast cell lines and normal peripheral leukocyte chromosome studies and one had a normal bone marrow karyotype with abnormal peripheral leukocyte chromosome studies. Chromosome studies were done in these patients with congenital contractures because of developmental delay and multisystem involvement, or recognition of clinical features typical of a chromosomal syndrome. We recommend first lymphocyte; and if those are normal, then fibroblast studies be done on all patients with multiple joint contractures and developmental delay, particularly if unusual facial features or multisystem abnormalities are present.
BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a congenital symptom complex characterized by multiple joint contractures. AMC results from fetal akinesia due to extrinsic factors (oligohydramnios) or primary neurogenic or myopathic conditions of the fetus. METHODS: We retrospectively reviewed our perioperative experience in 12 patients with AMC. RESULTS: Intraoperative issues noted in our patients included difficulties with peripheral IV placement (n = 3), difficult tracheal intubation (n = 4), and intraoperative hyperthermia (n = 4). Difficulties with peripheral IV placement were more common in younger patients (2.3 +/- 0.6 vs 9.2 +/- 3.5 years). Although easy bag-valve-mask ventilation was present in all 12 patients, difficulty with tracheal intubation was noted in four patients. In these four patients, the airway was secured using an LMA (n = 3) or a facemask (n = 1). The patients in whom difficulties with tracheal intubation were encountered were older than patients in whom no difficulties were noted (11.0 +/- 2.9 vs 5.8 +/- 3.9 years). Four patients developed intraoperative temperatures > or =37 degrees C; however, there was no evidence of hypercarbia or tachycardia suggestive of malignant hyperthermia. Postoperative issues included stridor (n = 2) and postoperative atelectasis (n = 3). CONCLUSIONS: The perioperative care of patients with AMC should consider not only the physical manifestations of the disease process, but also the implications of the underlying neuromuscular disease. The most common perioperative issues included difficulties with airway management, problematic intravenous access, and intraoperative hyperthermia.
A case of arthrogryposis multiplex congenita in an eight-year-old girl was recounted by Thomas of Monmouth in a mid twelfth-century English hagiographic narrative, The Life and Miracles of St William of Norwich. The child had deformities of both hands and both feet at birth, and she developed torticollis and probably had some degree of hypotonia. She needed total care, her family took her to the tomb of St William in the cathedral at Norwich. This visit produced some sort of improvement in her health. Her parents, seeking a miracle, were satisfied that one had occurred.
At the end of the 1974 epizootic of bovine congenital arthrogryposis and hydranencephaly in south-eastern New South Wales, an Australia-wide serological survey (about 4,000 serums) was made to determine the ditribution of cattle possessing serum neutralising antibodies against Akabane virus. Eighty per cent of the serums from cattle in northern Australia (Western Australia, Northern Territory, and Queensland) were positive. A detailed study in the epizootic area in New South Wales (particularly around Bega) showed that 80 to 100% of serums from cows in herds in this area possessed neutralising antibodies. The animals possessing antibodies extended as far south as Genoa in north-eastern Victoria, and as far west as Darlington Point on the Murrumbidgee River. There were no positive herds along the Murray River, where an outbreak of the mosquito-borne disease Murray Valley encephalitis occurred in 1974. Serums tested from cows in the rest of Victoria, South Australia, south-western Western Australia, and Tasmania were negative. Arthrogrypotic calves born in Tasmania and south-western Western Australia were not associated with the presence of Akabane virus. In Papua New Guinea, serums collected from cattle at Boroka, Lae, and Goroka did not possess neutralising antibodies. The distribution of cattle possessing antibodies in Australia would fit a spread of the virus by Culicoides brevitarsis, a biting midge from which Akabane virus had been isolated on three occasions. The possibility of other vectors, as well as C. brevitarsis, was suggested by the presence of cows possessing antibodies at Alice Springs, where this biting midge has not been found. Possibly most cattle in northern Australia become infected early in life. The epizootics in New South Wales could occur when seasonal conditions allow a southerly extension of virus-infected C. brevitarsis which feed on susceptible pregnant animals. C. brevitarsis also bites sheep, and both neutralising antibodies to Akabane virus and congenitally deformed lambs have been observed in the epizootic area. An understanding of the distribtuion of Akabane virus and C. brevitarsis, a possible Australian vector for bluetongue virus, may prove useful if bluetongue should enter Australia.
Epizootics of congenital neurological defects in calves have been recorded at various intervals in south eastern New South Wales for over 40 years. In 1974 a particularly severe outbreak occurred. Field observations of the clinical entities, their time of appearance, distribution and incidence were recorded in an attempt to determine an epidemiological pattern. The neurological entities observed occupied different time spans in the epizootic, the order of appearance being polioencephalomyelitis, arthrogryposis, hydranencephaly and micrencephaly. The probable period of infection correlated well with the likely presence of Culiciodes brevitarsus in the epizootic area and the distribution and incidence of neurologic cases likewise correlated well with the expected geographical and climatic distribution of C. brevitarsus in this period. The probable association of Akabane virus infection and the outbreak of stillbirths and abortions which preceded the neurologic entities is discussed.
A syndrome of congenital malformations in Corriedale sheep characterised by brachygnathia inferior, campylognathia, tetraemlic arthrogryposis, kyphoscoliosis, hydranencephaly and hypoplasia of the brain stem, cerebellum and spinal cord occurring in various combinations is described. Histologically there was generalised hypomyelinogenesis and hypoplasia of the central nervous system with neurogenic atrophy of skeletal muscle. The syndrome resembled that caused by congenital infection with Akabane virus, however, serological, pathological and epidemiological data indicated that Akabane virus was not involved. The results of a breeding trial suggested that the disorder may be transmitted with an autosomal recessive mode of inheritance.