1/11. Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. They had a syndrome of micrencephaly with simplified gyral pattern, abnormal myelin formation and arthrogryposis. Increased variation of fiber size was seen in the muscle biopsy, creatine kinase, however was normal. Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic process in the muscles. The syndrome showed an autosomal recessive inheritance.- - - - - - - - - - ranking = 1keywords = hypokinesia (Clic here for more details about this article) |
2/11. 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 = hypokinesia (Clic here for more details about this article) |
3/11. 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 = hypokinesia (Clic here for more details about this article) |
4/11. A new syndrome of myopathy with muscle spindle excess.arthrogryposis may result from various neuromuscular or connective tissue disorders leading to in utero hypokinesia or akinesia and the prenatal development of joint contractures. We report the case of a preterm neonate born with arthrogryposis and flaccid quadriplegia that led to the diagnosis of myopathy with muscle spindle excess. The rare and unusual histopathologic abnormality associated with the myopathy illustrated in this case has been described in only three other cases in the medical literature. The concurrence of hypertrophic cardiomyopathy, arthrogryposis, and myopathy with muscle spindle excess suggests the presence of a newly described syndrome. This case clearly demonstrates that specific prenatal ultrasonographic findings combined with the presenting clinical manifestations should promptly raise the suspicion of a neuromuscular disorder.- - - - - - - - - - ranking = 1keywords = hypokinesia (Clic here for more details about this article) |
5/11. Two cases of fetal akinesia/hypokinesia sequence.Two cases of fetal akinesia sequence are described. Both showed facial anomalies, arthrogryposis multiplex, bilateral camptodactyly, and pulmonary hypoplasia. One child had degeneration of large motor neurons of the thoracolumbosacral spinal cord and irregular atrophy of diaphragm; the other had left microphthalmia, hemiatrophy of the left temporal lobe with calcification of degenerated neurons, and hypoplasia of the cervothoracic spinal cord with decrease and degeneration of neurons. The iliopsoas and intercostal muscles showed focal myofiber atrophy. These findings suggested that some instances of this fetal akinesia syndrome might be due to neuromuscular dysfunction that occurred in utero and may have various causes.- - - - - - - - - - ranking = 4keywords = hypokinesia (Clic here for more details about this article) |
6/11. association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity.We report on 3 unrelated patients with the heterogeneous fetal hypokinesia sequence. They have distal arthrogryposis, severe developmental retardation, facial anomalies as seen in the Freeman-Sheldon syndrome ("whistling face"), and Pierre Robin sequence. The present cases show a remarkable clinical resemblance to the 3 sibs described by Illum et al. (Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bersen A (1988): Neuropediatrics 19:186-192), where calcium deposits were found in the nervous system and skeletal muscle. The presence of severe to profound developmental retardation in the present 3 patients is equally in favour of a central nervous system abnormality as the pathogenetic basis of the fetal hypokinesia sequence with secondary facial changes and distal arthrogryposis.- - - - - - - - - - ranking = 2keywords = hypokinesia (Clic here for more details about this article) |
7/11. German syndrome in sibs.We present a male-female sib pair born to Ashkenazi Jewish parents with "arthrogryposis," hypotonia-hypokinesia sequence and lymphedema. Of all the "arthrogryposis" hypotonia syndromes, the condition in these sibs appears to be most like that of the patients of German et al [1975] and the patient of salmon [1978]. They appear to be the first sib pair with German syndrome, which suggests autosomal recessive inheritance. Three of the four known families with affected children have been Ashkenazi jews.- - - - - - - - - - ranking = 1keywords = hypokinesia (Clic here for more details about this article) |
8/11. Fetal hypokinesia syndrome in the monochorionic pair of a triplet pregnancy secondary to severe disruptive cerebral injury.We report a set of triplets, two of whom were monochorionic diamnionic and demonstrated cerebellar hypoplasia and progressive arthrogryposis on an antenatal sonogram. At delivery the infants exhibited a Pena-Shokier phenotype. At autopsy, the twins were concordant for severe disruptive lesions of the cerebrum. The mechanism resulting in the devastating symmetric lesions may have been a transient cerebral vascular compromise associated with placenta vascular anastomoses characteristic of monochorionic twinning. This report accentuates the vulnerability of the monochorionic twin for ischemic cerebral injury.- - - - - - - - - - ranking = 4keywords = hypokinesia (Clic here for more details about this article) |
9/11. Restrictive dermopathy: a lethal congenital skin disorder.Restrictive dermopathy is a recently described lethal congenital disorder of the skin with an autosomal recessive mode of inheritance. The rigidity of the skin impairs fetal movements in utero and causes arthrogryposis, as well as highly characteristic facial features and pulmonary hypoplasia. We report two cases of restrictive dermopathy in prematurely born infants, describe the typical pathological findings and discuss this disorder in the context of the fetal akinesia/hypokinesia deformation sequence.- - - - - - - - - - ranking = 1keywords = hypokinesia (Clic here for more details about this article) |
10/11. Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?Aase-Smith syndrome (ASS) is usually defined as a dominantly inherited combination of arthrogryposis, Dandy-Walker malformation and cleft palate. We describe a sporadic case of foetal akinesia with abnormal fossa posterior, fitting the diagnosis of ASS, and discuss the nosology of this entity among syndromes with distal arthrogryposis. ASS shows a "hybrid" phenotype: adults with mild ASS could be classified as distal arthrogryposis, whereas severely affected newborns overlap with the Marden-Walker phenotype, which is recessively inherited. The specificity of the disorder comes from the coexistence of both forms in the same pedigree, so that ASS appears impossible to diagnose with certitude in sporadic cases. We suggest that the severe expression of ASS is only the extreme but aspecific expression of a dominantly inherited form of distal arthrogryposis. Implications for genetic counselling in distal arthrogryposis are outlined.- - - - - - - - - - ranking = 4keywords = hypokinesia (Clic here for more details about this article) |
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