Cases reported "Arthrogryposis"

Filter by keywords:



Filtering documents. Please wait...

1/50. prenatal diagnosis of distal arthrogryposis type 1.

    A 23-year-old woman, gravida 1 parity 0, was referred for routine ultrasound examination at 23 weeks gestation. Fetal anatomy was normal. However, both hands demonstrated clasped thumbs without extension. Repeated ultrasound examination verified the bilateral hands posture. The position of the hands did not change following sound stimulation. The child was diagnosed as distal arthrogryposis type 1. Prenatal counselling by the pediatric orthopedic surgeon, geneticist and gynecologist, was provided, to inform the parents on the probable outcome of the fetus and the hands. The parents were advised to continue with the pregnancy. A 1,975-g healthy boy was delivered by spontaneous vaginal delivery. Neonatal examination confirmed the prenatal diagnosis of arthrogryposis type 1. Following reconstructive surgery the child functions well with both his hands.
- - - - - - - - - -
ranking = 1
keywords = gestation, pregnancy
(Clic here for more details about this article)

2/50. 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 = 3.9257906163586
keywords = gestation, pregnancy
(Clic here for more details about this article)

3/50. 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 = 1.7314476540897
keywords = gestation, pregnancy
(Clic here for more details about this article)

4/50. 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 = 0.26855234591034
keywords = pregnancy
(Clic here for more details about this article)

5/50. prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome.

    BACKGROUND: The Cerebro-Ocular-Facio-Skeletal (COFS) syndrome is an autosomal recessive condition characterized by neurogenic arthrogryposis, severe facial anomalies and brain maldevelopment. We describe here the first case of prenatal diagnosis of this syndrome in a 21-week fetus. CASE: The woman was referred to our unit on suspicion of fetal microphthalmia. On trans-abdominal ultrasound, severe bilateral microphthalmia was confirmed. Micrognathia, multiple joint contractures and rockerbottom feet were also detected. On the basis of these findings, the diagnosis of COFS syndrome was hypothesized. After termination of pregnancy, necropsy confirmed all prenatal findings. histology showed severe architectural derangement of the eye and brain together with cerebellar anomalies compatible with the diagnosis of COFS syndrome. CONCLUSIONS: To the best of our knowledge, this represents the first case of prenatal diagnosis of COFS syndrome. This case demonstrates the feasibility of such a diagnosis by ultrasound and identifies the malformations already present and detectable at mid-gestation.
- - - - - - - - - -
ranking = 1
keywords = gestation, pregnancy
(Clic here for more details about this article)

6/50. misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis.

    We report on clinical evaluations of Brazilian patients with misoprostol-induced arthrogryposis. All 15 patients had growth retardation, underdeveloped bones, short feet with equinovarus, rigidity of several joints with skin dimples and webs, decreased movement of legs stemming from neurologic impairment, bilateral symmetrical hypoplasia or atrophy of limb muscles, and absent tendon reflexes. Of the 15 patients, five had upper limb deformities in addition to lower limb involvement, and one had spinal cord disruption leading secondarily to segmental sensory loss and neurogenic bladder and bowel. Electroneuromyography of five patients indicated that the abnormalities were of neurogenic origin and suggestive of anterior horn cell defects. All of their mothers took 400-4,800 mcg of misoprostol orally or vaginally at 8 to 12 weeks of pregnancy. Our observations support a previously stated caution with regard to the embryotoxicity of misoprostol.
- - - - - - - - - -
ranking = 0.26855234591034
keywords = pregnancy
(Clic here for more details about this article)

7/50. 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 = 1.2685523459103
keywords = gestation, pregnancy
(Clic here for more details about this article)

8/50. Pena-Shokeir phenotype with variable onset in three consecutive pregnancies.

    The Pena-Shokeir phenotype represents an autosomal recessive syndrome characterized by neurogenic arthrogryposis, facial anomalies and pulmonary hypoplasia. prenatal diagnosis of this disease has been reported prospectively and in cases with positive family history. We describe here a patient who has had three consecutive pregnancies affected by the Pena-Shokeir syndrome. In these pregnancies, the onset of the arthrogryposis varied between the 12th and the 18th week of gestation. Therefore, the possibility of a variable chronological development of the main diagnostic feature of the syndrome, arthrogryposis, has to be taken into proper consideration while counseling families with a positive history for the Pena-Shokeir phenotype.
- - - - - - - - - -
ranking = 0.73144765408966
keywords = gestation
(Clic here for more details about this article)

9/50. arthrogryposis and multicystic encephalopathy after acute fetal distress in the end stage of gestation.

    The natural history of the rare association "multicystic encephalopathy-arthrogryposis" was traced in a fetus carefully followed after artificial insemination. The fetus exhibited normal viability and brain morphology up to the 32nd week. At 36 weeks, active movements diminished and at 37 weeks, hydramnios and signs of fetal distress led to cesarean section. The infant presented with severe arthrogryposis of the limbs and spine, but not with the other elements of a long-lasting akinesia. US showed multicystic encephalopathy. Both the clinical and the neuropathological findings established that multicystic encephalopathy was neither the cause nor the sequential consequence of the fetal akinesia, but the result of a recent diffuse, acute malacic process that also involved the anterior horn cells. Acute fetal distress, responsible for major ischemic damage to CNS but compatible with fetal survival, remains an obscure condition which allows for the development of severe arthrogryposis in a few weeks.
- - - - - - - - - -
ranking = 2.9257906163586
keywords = gestation
(Clic here for more details about this article)

10/50. acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

    Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita. Neuromuscular disorders are among the many different causes of reduced fetal movement. Many congenital myasthenic syndromes (CMSs) are due to mutations of the adult-specific epsilon subunit of the acetylcholine receptor (AChR), and, thus, functional deficits do not arise until late in gestation. However, an earlier effect on the fetus might be predicted with some defects of other AChR subunits. We studied a child who presented at birth with joint contractures and was subsequently found to have a CMS. Mutational screening revealed heteroallelic mutation within the AChR delta subunit gene, delta 756ins2 and delta E59K. Expression studies demonstrate that delta 756ins2 is a null mutation. By contrast, both fetal and adult AChR containing delta E59K have shorter than normal channel activations that predict fast decay of endplate currents. Thus, delta E59K causes dysfunction of fetal as well as the adult AChR and would explain the presence of joint contractures on the basis of reduced fetal movement. This is the first report of the association of AChR gene mutations with arthrogryposis multiplex congenita. It is probable that mutations that severely disrupt function of fetal AChR will underlie additional cases.
- - - - - - - - - -
ranking = 0.73144765408966
keywords = gestation
(Clic here for more details about this article)
| Next ->


Leave a message about 'Arthrogryposis'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.