1/33. 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 = 1keywords = pregnancy (Clic here for more details about this article) |
2/33. 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 = pregnancy (Clic here for more details about this article) |
3/33. 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 = pregnancy (Clic here for more details about this article) |
4/33. 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 = 1keywords = pregnancy (Clic here for more details about this article) |
5/33. 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 = 1keywords = pregnancy (Clic here for more details about this article) |
6/33. 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 = 1keywords = pregnancy (Clic here for more details about this article) |
7/33. 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 = 2keywords = pregnancy (Clic here for more details about this article) |
8/33. prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology.arthrogryposis multiplex congenita is a general term for congenital multiple joint contractures, the aetiology of which is variable. prenatal diagnosis is usually based on the detection of diminished fetal movements and joint contractures on ultrasound. There are also reports of early diagnosis of arthrogryposis in the first and early second trimester by detection of subcutaneous oedema. We report another case of arthrogryposis multiplex congenita with increased nuchal translucency and scoliosis diagnosed by ultrasonography at 15 weeks of gestation. The pregnancy was terminated at the request of the parents. Post-mortem examination revealed that it was not associated with fetal myopathy or neuropathy. Multiple joint contractures with increased nuchal translucency without any underlying fetal neurogenic and myogenic pathology may be a distinct form of arthrogryposis multiplex congenita.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
9/33. arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression?arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies. The rate of recurrence ranges from 25% in some recessive forms of myogenic arthrogryposis or of primary anterior horn cell loss, to less than 1% in anoxic-ischaemic damage. Cerebral clastic processes are considered as sporadic. We report on a non-consanguineous family in which the first child was affected by AMC and the following pregnancy was terminated because cerebellum hypoplasia was suspected at ultrasound and confirmed by fetal magnetic resonance imaging. Post-mortem findings demonstrated pontocerebellar ischaemic-haemorrhagic injuries. The occurrence of these neurologic abnormalities in the same family suggests a common mechanism, which might correspond to a same genetic defect with different patterns of expression. This is the first prenatal report suggesting that an 'ischaemic' process, usually recognised as sporadic could in fact be due to an inherited abnormality. Careful prenatal follow-up of third-trimester fetal brain development may be required in pregnant women with a family history of AMC.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
10/33. Abdominal pregnancy. Case report, review of the literature.Abdominal pregnancy (AP) is a rare form of ectopic pregnancy (EP). It is a medical emergency because of high maternal and fetal morbidity and mortality. early diagnosis is essential. Surgery is indicated as soon as the diagnosis is made. We present a case with AP in the third trimester with malformed fetus and left ovarian tumour. The fetus has been extracted at 33 weeks gestational age; the placenta and the ovarian tumour have been removed five weeks later. pathology showed corpus luteum with hemorrhage, serous cystadenoma, follicular cyst. The fetus died, the woman successfully recovered.- - - - - - - - - - ranking = 6keywords = pregnancy (Clic here for more details about this article) |
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