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An unusually high incidence of talocalcaneal coalition is reported in a group of patients with arthrogryposis multiplex congenita with resistant talipes equinovarus deformities.
Arthrogryposis has an evil reputation among orthopedic surgeons, for the deformities are known to be resistant to correction and relapse during growth is common. It is suggested that many of these difficulties have been due to a delay in initiating treatment, to the use of unsuitable methods such as manipulation, and to a lack of appreciation of the pathologic changes. The author's experience with a large number of personally treated cases has convinced him that aggressive surgical treatment in infancy and early childhood is more successful than previously accepted methods of care (Figs. 22, 23).
Forty-five cases of arthrogryposis multiplex congenita were reviewed with respect to deformities and function of the hand. A distal predominance of the involvement and severity was apparent; hand deformity was a common manifestation in the arthrogrypotic patients. The majority of the hand deformities consisted of two types: one was a thumb-in-palm deformity with the fingers in intrinsic plus position, and another type was flexion contractures of the fingers at the interphalangeal joints. Regardless of type, hand function was impaired with severe or moderate deformity. Twenty-nine hands of 17 patients were successfully treated by surgery. Surgical methods are discussed based on an analysis of hand deformity and function.
Scoliosis was evident in eighteen of eighty-eight patients with arthrogryposis multiplex congenita. The predominant pattern of spinal deformity was a structural thoracolumbar double curve that extended to the sacrum and was associated with pelvic obliquity and lumbar hyperlordosis. Significant contractures about the hips, dislocation of the hip, or both were present in all patients but one. Most of the curves were progressive and they became rigid and fixed at an early age. There was progression of the pelvic obliquity coincident with progression of the curve. Treatment by corrective casts or a Milwaukee brace was ineffective and if surgical treatment directed at the pelvic obliquity did not correct that deformity, spine fusion to the sacrum appeared necessary.
In 4 female foals of the Norwegian horse breed, "Fjord Horse", congenital arthrogryposis of the limbs are described. The disorder was mainly limited to the hind limbs and associated with polydactylia and partly with brachygnathia superior and cleft palate. The defective foals were paternal halfsisters of 4 normal foals (1 female + 3 males), sired by the stallion "Bingo" 1804, which was phenotypically quite normal. The disorder being lethal, is possibly caused by a sex-limited or a strongly sex-influenced dominant gene.
Many patients with larsen syndrome have been misdiagnosed as having arthrogryposis. Larsen syndrome should be considered in any child with multiple joint dislocations, particularly when the knees are involved. Spinal malalignment of a serious degree was encountered in five of the six patients we report and appears to have been underemphasized previously. Two of the patients had unusual ossicles of uncertain derivation at the elbow. This has been described only five times before.
The Pena-Shokeir I syndrome is characterized by prenatal onset of growth deficiency, a specific constellation of facial features, multiple ankyloses, camptodactyly, and talipes equinovarus and is almost invariably fatal. A common and perhaps specific radiographic sign is that of subluxations at interphalangeal joints of the fingers, present in four of six patients described here. This autosomal recessive syndrome should be differentiated from arthrogryposis multiplex congenita on the basis of the unusual facial configuration and early lethality, even when interphalangeal subluxations are absent.
No congenital arthrogryposis or other deformities were found in newborn Hampshire pigs born to sows administered Datura stramonium (jimsonweed) during the second or third months of pregnancy at levels producing marked clinical signs of toxicity in the dams. The results suggest that jimsonweed is not teratogenic in pigs, contrary to epidemiologic speculation by other workers.
Two unrelated children were born with severe congenital malformations: a girl now seven years old and a boy who died in the newborn period. Both had severe cervical hyperextension, severe flexion deformities of the limbs, and bilateral popliteal pterygia. Postmortem examination of the second case showed small, well-formed thoracic vertebrae with mild epidural fibrosis and hemorrhage. These births defects are rare and usually occur separately. We postulate that they are related in these two cases; that the arthrogryposis and popliteal pterygia were probably the result of the spondylohypoplasia and associated changes; and that together, these related defects may constitute a new malformation complex.
Club foot is one of the most common human congenital malformations. Distal arthrogryposis type I (DA-1) is a frequent cause of dominantly inherited club foot. Performing a genomewide search using short tandem repeat (STR) polymorphisms, we have mapped a DA-1 gene to the pericentromeric region of chromosome 9 in a large kindred. Linkage analysis has generated a positive lod score of 5.90 at theta = 0, with the marker GS-4. Multiple recombinants bracketing the region have been identified. Analysis of an additional family demonstrated no linkage to the same locus, indicating likely locus heterogeneity. Of the autosomal congenital contracture disorders causing positional foot deformities, this is the first to be mapped.
This article is a comprehensive review on arthrogryposis multiplex congenita of the upper extremity. The introduction contains information on definition, etiology, pathogenesis, differential diagnosis and manifestations outside the upper extremity. The main section focuses on the upper limb and expands on epidemiology, patterns of deformity, their natural evolution, on related functional problems, and general principles of treatment. Finally, the various regional deformities are presented and guidelines are given for conservative or operative treatment.
The discovery of a fetal abnormality during ultrasonography is a widely acknowledged indication for genetic amniocentesis. We present a case in which the early diagnosis of severe arthrogryposis led to the diagnosis of trisomy 18.
Arthrogryposis multiplex congenita is a congenital syndrome characterized by multiple congenital joint contractures; and refers to a large heterogeneous group of disorders. We present a 40 days old male baby who has had multiple fixed contractures of joints since birth. Midline capillary hemangioma, internal rotation of bilateral shoulders, extension contracture of elbows, flexed wrists with pronation deformity, flexion and internal rotation of hips, equinovarus of feet were noted. A series of examinations for differential diagnosis including brain sonogram, echocardiogram, muscle echogram, muscle biopsy, chromosome study were performed and all showed normal findings. Amyoplasia was impressed. Early rehabilitation was arranged. Normal intelligence and a normal life span are expected.
Congenital sensory neuropathies associated with arthrogryposis multiplex congenita (AMC) are rare. We report a unique case of a nine-week-old, full-term infant with AMC, congenital sensory neuropathy, and posterior column degeneration. The family history was negative for neuromuscular disease. At birth, the infant was small for gestational age, indicative of intrauterine growth retardation. He was hypotonic and hyporeflexic, and failed to sustain respiration. He remained ventilator-dependent throughout his life. Electrodiagnostic studies indicated widespread peripheral neuropathy. At two weeks of age, biopsied sural nerve was almost completely devoid of myelinated axons; quadriceps skeletal muscle contained only mild and nonspecific abnormalities. Autopsy showed pulmonary hypoplasia. The major nervous system findings were severe, bilateral posterior column degeneration, mild posterior horn gliosis, atrophy of posterior roots, and axonal degeneration of the peripheral nerves. Sensory and autonomic (vagal) nerves were preferentially involved, with relative sparing of motor nerves. This case suggests that interruption of kinesthetic pathways early in gestation may result in fixed joints.
BACKGROUND: Amyoplasia is the most commonly seen diagnostic subgroup of children with arthrogryposis. The natural history of these children has not been well described previously. METHODS: Review of the medical records of 38 children with amyoplasia enabled us to describe their birth characteristics, therapeutic interventions, and functional outcomes. RESULTS: Eighty-four percent of the children had symmetrical, four-limb involvement, which was similar to the original descriptions of amyoplasia, at birth. There was an average of 5.7 orthopedic procedures per child, and the children had multiple castings and splintings of their limbs and participated in physical and occupational therapy on a regular basis. By the age of 5 years, 85% were ambulatory, most were relatively or completely independent in their activities of daily living, and most were in regular classrooms at the appropriate grade level. CONCLUSION: Although children with amyoplasia have pronounced musculoskeletal involvement at birth, which requires orthopedic and rehabilitative interventions during their childhood, their functional outcome in both physical and educational areas is excellent.
The case of a four-year old girl with arthrogryposis multiplex congenita is reported. Primary clinical examination revealed bilateral passive elbow flexion only 0-20-70 without active elbow flexion. A two-stage operative procedure was chosen for both sides. At first an elbow arthrolysis was performed with subsequent intensive physiotherapy. In a second session we performed a bipolar transposition of the latissimus dorsi as a myocutaneous flap. The patient was first operated on the left and afterwards on the right side. By this procedure, the patient achieved a significant improvement of both passive and active elbow flexion mobility. The range of active motion was 0-30-90 and 0-40-90 degrees.
Anesthesia was administered for six times to a patient with arthrogryposis multiplex congenita (AMC) at the age of 10 to 17 years. In the first four occasions of anesthesia, difficult tracheal intubation was encountered due to limited neck extension, inadequate mouth opening and the short epiglottis. On the fifth anesthesia, the patient remained conscious even after intravenous injection of thiopental 6.6 mg.kg-1, and enflurane in combination with nitrous oxide was administered to induce anesthesia. During the induction of the sixth anesthesia, excessive oral secretion and severe continued nausea were observed just after intravenous administration of thiopental 5.3 mg.kg-1. These were overcome by intravenous administration of ketamine 2.0 mg.kg-1. Problems such as difficulty in tracheal intubation and abnormal response to thiopental need special attention in patients complicated with AMC, particularly during induction of anesthesia.
BACKGROUND AND OBJECTIVES: Arthrogryposis multiplex congenita (AMC) is a syndrome, diagnosed at birth, which presents with multiple joint contractures. Because this disease often progresses until there is dysfunction of multiple organ systems, it may have an impact on the anesthetic management. There are few anesthetic reports of this disease in the adult pregnant patient. METHODS: A patient with AMC who underwent elective cesarean delivery with continuous subarachnoid bupivacaine anesthesia. RESULTS: The patient delivered a healthy infant and recovered uneventfully from the anesthetic with no postoperative complications. CONCLUSION: Continuous spinal anesthesia can be safely used for cesarean delivery in patients with AMC in the presence of appropriate monitoring.