1/14. Pena-Shokier phenotype: case presentation and review.Pena-Shokier phenotype is an early lethal disorder involving multiple joint contractures, facial anomalies, and pulmonary hypoplasia. Alternative terms for this syndrome used in the literature include fetal hypokinesia syndrome, lethal congenital contracture syndrome, and Pena-Shokier syndrome type I. The etiology for the early cases was attributed to neuromuscular disease, with deformations owing to weakness or paralysis of the motor unit. An abnormality of spinal cord motoneurons has been postulated in some cases. Pena-Shokier phenotype can also result from blockade of the neuromuscular junction, as shown by recent observations with women expressing antibodies against the fetal acetylcholine receptor. It has been shown that the Pena-Shokier phenotype may result from intrauterine cerebral dysfunction as well, including acquired brain insults and congenital brain malformations. The ultimate prognosis for children with this disorder is dependent on the underlying etiology and the severity of pulmonary disease. The authors report a fatal case of Pena-Shokier phenotype with congenital polymicrogyria. To our knowledge, the case presented is the first reported Pena-Shokier phenotype associated with this type of brain malformation.- - - - - - - - - - ranking = 1keywords = hypokinesia (Clic here for more details about this article) |
2/14. Restrictive dermopathy in two sisters.Restrictive dermopathy (RD) is a very rare and lethal congenital skin disease. It is inherited by an autosomal recessive pattern with characteristic features of abnormally rigid skin, generalized joint contractures (arthrogryposis), and dysmorphic facies consisting of downward slanting eyes, a small pinched nose, low-set ears, a fixed open mouth in the O-position, and micrognathia. We report on 2 siblings from consecutive pregnancies affected with RD. They died of possible sepsis and respiratory insufficiency at 6 and 8 days after birth, respectively. This kind of stiff skin defect may lead to a fetal akinesia/hypokinesia deformation sequence, which causes the facial abnormalities of RD, as presented in these cases.- - - - - - - - - - ranking = 1keywords = hypokinesia (Clic here for more details about this article) |
3/14. Absent fetal movement response with a blunted cardioacceleratory fetal response to external vibratory acoustic stimulation in a fetus with the Pena-Shokeir syndrome (fetal akinesia and hypokinesia sequence).We present a case that describes a partial fetal response to external vibratory acoustic stimulation in that, although no fetal movements were elicited, a blunted, brief positive cardioacceleratory response was noted. This fetus exhibited features of the Pena-Shokeir syndrome, characterized by skeletal neurogenic atrophy, yet with a normal auditory system at autopsy. This observation may suggest that the prolonged increase in the basal fetal heart noted after fetal vibratory acoustic stimulation is sustained by active fetal movements, absent in this fetus due to joint contractures.- - - - - - - - - - ranking = 4keywords = hypokinesia (Clic here for more details about this article) |
4/14. 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) |
5/14. Restrictive dermopathy with distinct morphological abnormalities.A newborn child is described with the fetal hypokinesia sequence as a consequence of a restrictive dermopathy. Remarkable findings in this infant were neonatal teeth and survival till age 4 months. Ultrastructural examination of the skin showed thin epidermis and absence of elastic fibres.- - - - - - - - - - ranking = 1keywords = hypokinesia (Clic here for more details about this article) |
6/14. Pena-Shokeir phenotype with major CNS-malformations: clinicopathological report of two siblings.Clinical and pathological features of two siblings of opposite sex with the Pena-Shokeir phenotype are reported. A detailed account of the prenatal and dysmorphological findings is given in one case. A broad range of deformations regarded as secondary to fetal hypokinesia was present, including a number of yet unreported findings. One case showed additional endocrine hyperplasia and left lung trilobation. Both siblings displayed extensive, highly similar CNS-abnormalities. The type and convergence of these malformations differ from previously reported cases and characterize a new familial subtype of the Pena-Shokeir phenotype.- - - - - - - - - - ranking = 1keywords = hypokinesia (Clic here for more details about this article) |
7/14. microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome.Two still-born males whose mothers were sisters are presented. The features holoprosencephaly, hypokinesia, microcephaly, talipes, and other contractures correspond to those in the two male sibs reported by Morse et al. (1987). We suggest that our cases now provide evidence of an X-linked rather than an autosomal recessive new syndrome.- - - - - - - - - - ranking = 5keywords = hypokinesia (Clic here for more details about this article) |
8/14. 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) |
9/14. Fetal akinesia-hypokinesia deformation sequence (FADS) in 2 siblings with congenital myotonic dystrophy.Two premature siblings described herein had clinical features comparable to the fetal akinesia-hypokinesia deformation sequence (Pena-Shokeir syndrome) with polyhydramnios, intrauterine growth retardation, pulmonary hypoplasia, short umbilical cord and lethality. autopsy revealed no thoracal or abdominal viscera anomalies and examination of the brain, spinal cord and peripheral nerves did not disclose any pathological changes. light microscopy, immunohistochemistry and electron microscopy of skeletal muscles demonstrated immature muscles with some fibril disorganisation and abnormal immunoreactivity for actin and desmin. Subsequent molecular genetic analysis revealed a maternal diagnosis of myotonic dystrophy. The retarded growth and maturation of skeletal muscle observed in the presented cases correspond with previous findings in neonatal myotonic dystrophy. A well-defined myopathy can thus result in the fetal akinesia-hypokinesia deformation sequence.- - - - - - - - - - ranking = 6keywords = hypokinesia (Clic here for more details about this article) |
10/14. 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) |
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