1/159. Non-lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age.arthrogryposis is defined as multiple joint contractures, the aetiology of which is variable. prenatal diagnosis has focused on diminshed fetal movement and detection of joint contractures on ultrasound. These findings usually do not become evident until 16 to 18 weeks of gestation. Although others (Baty, 1989; Hyett et al., 1997) have reported the diagnosis of arthrogryposis in the first and early second trimester by the presence of nuchal oedema, these reports have all focused on lethal conditions. We report on two female siblings with non-lethal arthrogryposis multiplex congenita. The diagnosis was suspected in the second pregnancy at 13.5 weeks when a large cystic hygroma was detected on ultrasound. Multiple joint contractures became evident at 18 weeks. We hypothesize that the aetiology may be secondary to delay in lymphatic maturation with development of a large cystic hygroma resulting in restriction of fetal movement during early joint formation. Further, the fact that the two female siblings had a similar pattern of facial and joint development, and that their parents are second cousins, suggests an autosomal recessive basis for this form of AMC.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
2/159. The C.C.A. syndrome (congenital contractural arachnodactyly): a new differential syndrome for Marfan's syndrome and homocystinuria.The first case in the dental literature of congenital contractural arachnodactyly (C.C.A. syndrome) is presented. This newly delineated syndrome is an autosomal dominant heritable disorder of connective tissue. Its similarities to Marfan's syndrome and homocystinuria, as well as other syndromes, are discussed. The lack of cardiovascular disease, specific ocular anomalies, and mental retardation are presented in the differential diagnosis of the C.C.A syndrome with Marfan's syndrome and homocystinuria.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
3/159. Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita.A 10-year-old female with arthrogryposis multiplex congenita is presented. Clinical, neurophysiologic, and histologic findings suggested a mild myopathy. The analysis of enzymatic activity in the homogenate and of mitochondrial function in saponin-permeabilized fibers from the muscle biopsy revealed an approximately twofold-decreased specific activity of the NADH:CoQ oxidoreductase (complex I of the mitochondrial respiratory chain) that was compensated for by an increased number of mitochondria. The complex I deficiency was also detected in cultivated skin fibroblasts of the patient. The observed defect of mitochondrial oxidative phosphorylation in arthrogryposis multiplex congenita may be of pathogenetic relevance.- - - - - - - - - - ranking = 1.2keywords = congenita (Clic here for more details about this article) |
4/159. arthrogryposis multiplex congenita and bilateral mid-brain infarction following maternal overdose of co-proxamol.We report a case of arthrogryposis multiplex congenita secondary to fetal hypokinesia in a 41-week gestation infant following antenatal central nervous system injury. The mother's pregnancy was complicated by an episode of attempted self harm, with an overdose of co-proxamol at 22 weeks of gestational age, and by the use of cocaine in combination with excess alcohol intake. Magnetic resonance imaging showed bilateral mid-brain cysts and marked atrophy of the basal ganglia and thalami.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
5/159. Anesthetic management for patients with arthrogryposis multiplex congenita and severe micrognathia: case reports.arthrogryposis multiplex congenita (AMC) is a spectrum syndrome of multiple persistent limb contractures often accompanied by associated anomalies, including cleft palate, genitourinary defects, gastroschisis, and cardiac defects. Pediatric patients with AMC frequently present for multiple surgeries requiring general endotracheal anesthesia. We describe our anesthetic experience with the laryngeal mask airway and endotracheal tube in two neonates with AMC and severe micrognathia. We discuss AMC and outline the problems encountered in difficult airway management.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
6/159. Congenital arthrogryposis associated with atlantoaxial subluxation and dysraphic abnormalities. Case report.The authors report the case of a 27-year-old woman with an arthrogryposis multiplex congenita (AMC) associated with atlantoaxial subluxation. To the authors' knowledge, this is the first report of its kind. The authors review the literature with reference to dysraphic abnormalities associated with atlantoaxial subluxation and with AMC. The patient presented with severe tetraparesis following a minor traffic accident. She underwent a procedure in which transoral decompression and dorsal stabilization were performed and, postoperatively, made a good clinical outcome. The authors stress the need for diagnostic neuroimaging of the craniocervical junction in patients with AMC.- - - - - - - - - - ranking = 0.2keywords = congenita (Clic here for more details about this article) |
7/159. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.- - - - - - - - - - ranking = 0.2keywords = congenita (Clic here for more details about this article) |
8/159. Use of the latissimus dorsi muscle to restore elbow flexion in arthrogryposis.The successful use of ipsilateral pedicle latissimus dorsi muscle to restore elbow flexion in a child with arthrogryposis multiplex congenita is described. In appropriately selected patients, use of the latissimus dorsi muscle for elbow flexor reconstruction is a strong, reliable flexorplasty without significant donor-site morbidity.- - - - - - - - - - ranking = 0.2keywords = congenita (Clic here for more details about this article) |
9/159. Successful vaginal delivery in a woman with amyoplasia.We report on the pregnancy management of a 22-year-old woman with amyoplasia, the commonest type of arthrogryposis multiplex congenita (AMC). Extrapolating from childhood and adult studies, the majority of cases are likely to be ambulatory and live independent lives as adults. Many females, therefore, would be expected to achieve a pregnancy. There have been several case reports on anaesthetic management for Caesarean section delivery in women with arthrogryposis, but no medical literature exists regarding the likelihood or management of vaginal delivery. This is the first reported case of conservative management of a woman with amyoplasia. A multi-disciplinary team was involved in her care. This involved careful assessment of her suitability for vaginal delivery, possible anaesthetic complications and potential difficulties in caring for an infant at home. Induction of labour at 37 weeks gestation resulted in the successful vaginal delivery of a liveborn healthy male.- - - - - - - - - - ranking = 0.2keywords = congenita (Clic here for more details about this article) |
10/159. arthrogryposis multiplex congenita in a patient with limited mouth opening: a case report.This report describes a case of arthrogryposis multiplex congenita and concomitant bruxism with limited mouth opening and pain in the temporomandibular joints (TMJ). A conservative treatment with a myorelaxing splint and physiotherapeutic exercises was prescribed resulting in improvement to the muscular and joint conditions and a reduction in pain.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
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