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PubMed1985

Possible windborne spread to western Turkey of bluetongue virus in 1977 and of Akabane virus in 1979.

An outbreak of bluetongue in sheep started in the Menderes valley, Aydin Province, Western Turkey, in October 1977. The severity of the disease indicated that it had not been there before but had been introduced into the area. Analysis showed that, while it was possible for the virus to have been brought into the area by movement of infected animals, there was also a period of south-easterly winds which could have carried infected midges from Cyprus, where bluetongue was present. During the night of 14-15 October 1977, south-easterly winds could have brought midges infected with bluetongue virus for the 15 h flight at a height possibly of 500 m and at temperatures of about 20 degrees C. A depression moving north-eastwards accompanied by rain may have affected the landing of midges in the Menderes valley on the morning of 15 October. An outbreak of arthrogryposis-hydranencephaly in newly born calves occurred in March-May 1980, also in the Menderes valley, Aydin Province. The severity of the outbreak indicated that Akabane virus had not been in the area before but had been introduced in September-November the previous year. While infected animals could have brought the virus into the area, analysis based on the probable time of infection of pregnant dams showed that easterly winds at the end of September or beginning of October 1979 could have brought insects infected with Akabane virus into the Menderes valley from eastern Turkey or northern Syria. These analyses illustrate the use of meteorological data to backtrack to possible sources and to identify the time of infection.

Air Movements↗
PubMed1985

A study of the host range and distribution of antibody to Akabane virus (genus bunyavirus, family Bunyaviridae) in Kenya.

Serum neutralizing antibody to Akabane virus (genus bunyavirus, family Bunyaviridae) was found in a high proportion (50-95%) of cattle sampled in Kenya, while sheep and goats had fewer positive (13-33%). Camel and horse sera also contained antibody to the virus (70% and 50% respectively). The antibody was found in animals from the high altitude temperature type of grasslands, drier bushed and wooded grasslands and the semi-desert. No arthrogryposis nor hydranencephaly has been encountered in Kenya which might be related to this widespread virus infection. A wide range of Kenyan wild ruminants had antibody to Akabane virus in their sera, as also did zebra.

Altitude↗
PubMed1991

Teratogenicity of the Palyam serogroup orbiviruses in the embryonated chicken egg model.

Embryonated chicken eggs were used as a model for assessing the teratogenic potential of several Palyam serogroup orbiviruses. Infection of 4-day-old embryonated chicken eggs via the yolk sac with eight of the viruses resulted in deaths or congenital deformities which included retarded development, arthrogryposis and reduced feathering. Statistical analysis showed that the viruses could be divided into three groups: those that caused death (Gweru virus isolates 866/77 and 1726/76; and Apies River virus), those that caused deaths only when large amounts of virus were inoculated (Gweru isolate AR11869 and Marondera virus) and those that caused death and deformities (Abadina, Kasba, Nyabira, Petevo and Vellore viruses). Differences in pathogenic potential were noted between isolates identified as the same serotype by serological tests.

Animals↗
PubMedDate not supplied

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.

Spinal muscular atrophies are a heterogeneous group of disorders. They differ in time of onset, clinical presentation, progression, severity and mode of inheritance. In 1985 a Dutch family was described with a dominant, non-progressive spinal muscular atrophy presenting at birth with arthrogryposis (MIM 600175). Linkage analysis was performed in this family. After having excluded the loci for Werdnig-Hoffmann's disease and for dominant distal spinal muscular atrophy with upper limb predominance, we were able to localise the gene to a 10 cM interval between the markers D12S78 and D12S1646 on chromosome 12q23-q24. Recently, dominant scapuloperoneal spinal muscular atrophy has been localised to an overlapping interval. However, the clinical appearances of scapuloperoneal spinal muscular atrophy and the present disorder make allelism unlikely. In 1994, a second Dutch family with a disorder similar to the present one was described. We excluded linkage to markers of the 12q23-q24 region in this family and thereby proved genetic heterogeneity of this type of dominant, congenital and nonprogressive spinal muscular atrophy.

Chromosome Mapping↗
PubMed1999

Trisomy 10: first-trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency.

We report a case of the prenatal diagnosis of trisomy 10 in a fetus presenting with an increased nuchal translucency thickness (5 mm) on a routine first-trimester anomaly scan at 12 weeks' gestation. Multiple abnormalities were diagnosed by ultrasound and fetoscopy. Karyotyping on chorionic villus sampling led to the diagnosis of homogeneous trisomy 10 which was confirmed by in situ hybridization on fetal tissue samples. Postmortem examination confirmed major anatomical malformations, including facial cleft, arthrogryposis of the upper and lower limbs and bilateral diaphragmatic hernia, and also revealed hypoplastic lungs, right renal agenesis and a complex cardiac malformation. Trisomy 10 is an uncommon chromosomal abnormality that is likely to be associated with increased fetal nuchal translucency. This case also emphasizes the value of a detailed anomaly scan in high-risk patients in the first trimester of pregnancy.

Abnormalities, Multiple↗
PubMed2002

Early fetal anomaly scanning in a population at increased risk of abnormalities.

OBJECTIVES: To determine the effectiveness of early fetal anomaly scanning in a population at risk of fetal anomalies. DESIGN: A prospective study in a tertiary center of 101 consecutive fetuses at risk of congenital anomalies at 11-14 weeks of gestation. RESULTS: The principal (93/101 = 92%) reason for referral was having a previously affected infant. Nine (9/101 = 9%) fetuses were shown to have structural anomalies at the 11-14-week scan. In five of nine structurally affected fetuses, the nature of the anomalies was similar to that established in a previously affected pregnancy, four of which had a recurrence of an autosomal recessive syndrome. In two fetuses with a normal 11-14-week scan, anomalies were detected at the 18-21-week (arthrogryposis) or 30-week (cardiomyopathy) scans. CONCLUSIONS: The majority of fetal anomalies can be diagnosed in the late first/early second trimesters of pregnancy. This will be of particular advantage to those women who are at high risk of having affected offspring. However, as fetal anomalies may present at varying gestational ages, the standard 18-21-week scan cannot be abandoned. The effectiveness of the early pregnancy scan depends on the natural history of anomalies (gestational age at onset) and the variable phenotypic expression of anomalies/syndromes.

Congenital Abnormalities↗
PubMed2002

First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy).

We describe the features of Fowler syndrome (proliferative vasculopathy and hydrocephaly-hydranencephaly) diagnosed in the first trimester. The pregnancy with no significant family history was referred for karyotyping and ultrasound examination after a cystic hygroma was seen at 12 weeks. At 13 weeks, ultrasound examination revealed hydrocephaly-hydranencephaly, fetal akinesia, and arthrogryposis associated with increased nuchal translucency. The parents opted for termination of pregnancy and the diagnosis of Fowler syndrome was confirmed by pathological examination of the fetus. Calcified necrotic lesions and proliferative vasculopathy were observed in the entire central nervous system including the brainstem and spinal cord. Cases previously reported in siblings suggest an autosomal recessive transmission but specific genetic antenatal diagnosis is not yet available. The diagnosis of proliferative vasculopathy and hydrocephaly-hydranencephaly (Fowler syndrome) should be considered whenever hydrocephaly-hydranencephaly associated with a fetal akinetic sequence are encountered at the end of the first trimester. Genetic counseling is recommended.

Adult↗
PubMedDate not supplied

Restrictive dermopathy: a case report and a critical review of all hypotheses of its origin.

Restrictive dermopathy (RD) is a rare, fatal, autosomal recessive genodermatosis in which tautness of a translucent thin skin is the major clinical observation. This causes an intrauterine fetal akinesia deformation sequence (FADS) resulting in polyhydramnios, reduced fetal movements at around 31 weeks gestation, dysmorphic facies, arthrogryposis, and early neonatal death because of respiratory insufficiency. The characteristic histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scant elastic fibers, and poorly developed skin appendages. The epidermal rete ridges are flattened and the dermal-hypodermal border is remarkably straight. The etiology of these changes remains unclear. We tested several existing hypotheses and could not confirm them. These included fibroblast dysfunction, abnormal keratin composition, desmosomal changes, and increased proinflammatory cytokines [tumor necrosis factor (TNF)-alpha and interleukin (IL)-6]. We conclude that RD is a relatively easy clinical and pathologic diagnosis, but that the pathogenesis of the disease is not clarified.

Abnormalities, Multiple↗
PubMed1999

Familial pontocerebellar hypoplasia type I with anterior horn cell disease.

We report the association of pontocerebellar hypoplasia and anterior horn cell disease in three female siblings. One child presented with the classical clinical and neuropathological features of pontocerebellar hypoplasia with associated anterior horn cell disease, described by Barth as pontocerebellar hypoplasia type I. This patient showed polyhydramnios, congenital contractures, respiratory insufficiency, hypotonia, areflexia, listlessness and myoclonic seizures. Postmortem examination revealed a loss of neurons and reactive gliosis in the pontocerebellum and in addition anterior horn cell atrophy resembling Werdnig-Hoffmann disease. Another sibling demonstrated the same clinical symptoms. However neuropathological findings showed evidence for pontocerebellar hypoplasia only. The third sibling was examined after induced fetal abortion because of prenatally diagnosed arthrogryposis. Anterior horn cell disease was obvious histologically whereas pontocerebellar hypoplasia could not be demonstrated due to cerebral autolysis. The similar clinical and neuropathological findings in the three reported siblings suggest a common genetic defect with different patterns of pontocerebellar hypoplasia and associated anterior horn cell disease. The gene defect of this rare disorder is still unknown. The 'survival motor neuron' gene of spinal muscular atrophy was not found in these three siblings.

Abnormalities, Multiple↗
PubMed2000

Diaphragmatic spinal muscular atrophy with bulbar weakness.

We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy.

Bulbar Palsy, Progressive↗
PubMed2003

Congenital flexion deformity of the middle finger and sagittal band hypoplasia.

PURPOSE: To report a congenital anomaly of the middle finger. METHOD: Nine patients (16 digits) are reported with congenital flexion deformity of the metacarpophalangeal (MCP) joint of the middle finger. Three patients (4 digits) had isolated deformities to the middle finger and in 6 the deformity was part of congenital ulnar drift (CUD) of the hand. Three patients had Freeman-Sheldon syndrome, 2 had nonsyndromic CUD, and 1 had arthrogryposis multiplex congenita. In CUD patients the middle finger had substantially greater flexion deformity of the MCP joint in comparison with other digits. Seven patients were treated surgically and 2 were treated nonsurgically. Five of the surgical patients had bilateral middle finger involvement. RESULTS: During surgery on 12 digits sagittal band hypoplasia of varying degrees was encountered in all patients and in all patients the extensor tendon of the middle finger was underdeveloped and often ulnarly displaced. Longitudinal imbrication of the remnants of the extensor tendon and centralizing the tendon if necessary by radial sagittal band reefing improved MCP joint flexion deformity. CONCLUSIONS: Congenital middle finger-in-palm deformity in our patients was caused by sagittal band and extensor tendon hypoplasia.

Female↗
PubMed2000

Monozygotic twins with fetal akinesia: the importance of clinicopathological work-up in predicting risks of recurrence.

Fetal Akinesia Deformation Sequence (FADS) or Pena-Shokeir Sequence is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies: multiple contractures, pulmonary hypoplasia, craniofacial anomalies, polyhydramnios, intrauterine growth retardation, and short umbilical cord. Three sets of monozygotic twins, and their affected sibs, are presented. Detailed pathological work-up established that the two pairs of twins concordant for FADS were of myogenic etiology while the set discordant was due to anoxic-ischemic damage. In the myogenic cases, the rate of recurrence was high, in agreement with the findings from the study on arthrogryposis multiplex congenita of myogenic origin. In light of these findings, in sporadic cases of myogenic FADS, counselling, a recurrence risk of 25% seems prudent. In neurogenic cases associated with primary cerebral malformations, there are cases cited in the literature that are clearly recessive as indicated by affected sibs, but many reported are isolated occurrences. Therefore, in this scenario, giving a recurrent risk of 10-15% appears appropriate. In light of autosomal recessive spinal muscular atrophy and reports of familial FADS due to primary anterior horn cell loss, counselling a 25% risk seems prudent. In cases due to anoxic-ischemic damage, offering a low recurrent risk of 1% appears justified.

Female↗
PubMedDate not supplied

[Congenital unilateral muscular hyperplasia of the hand - a rare malformation].

This is a report on eight cases of a rare congenital malformation in the upper extremity, consisting of a unilateral muscular hyperplasia. In addition to the hand, all segments of the upper extremity may be affected. The hyperplasia is always unilateral, preferably on the right hand side, in combination with accessory muscles. Hereditary dependence or association with other malformations has not been observed. Six of eight patients were male. Shoulder and arm function were normal in all cases. Ulnar drift of the fingers in the metacarpophalangeal joints (six of eight patients), flexion contractures of the metacarpophalangeal joints (six of eight patients) and extension contractures of the wrist (three of eight patients) to various degrees were seen. A prominence of the second and third metacarpal head with an enlarged space between them gave the affected hands a very typical appearance (six of eight patients). Deformities and functional limitations requiring surgical treatment were present in six patients. In all cases, accessory muscles were found intraoperatively and resected. The macroscopic and microscopic appearance of the muscle specimen did not differ from normal muscular tissue. In all cases, additional procedures were necessary to improve the overall function. Nevertheless, the reconstructive efforts did not lead to an entirely normal hand function or appearance. The malformation we describe can clearly be distinguished from other malformations such as arthrogryposis multiplex congenita, Freeman-Sheldon syndrome or macrodactyly. Up to now, only two other reports were found in the literature showing characteristics similar to those in our own cases. Four similar cases were observed by Benatar. From a pathomechanical point of view, a disturbance in the muscular balance seems to cause the deformities and functional limitations. This imbalance could be related to accessory muscles which are not opposed by defined antagonists or to an unbalanced hyperplasia of normally developed musculature. Surgical intervention should begin early to prevent joint stiffness. Splinting and hand therapy should precede surgical intervention. Surgical treatment should aim to restore the muscular balance by resection of accessory and hyperplastic musculature. In some cases, muscle transpositions and joint releases may have to be performed. Postoperative splinting and intensive hand therapy are mandatory to preserve the results.

Adolescent↗
PubMed1999

Merosin-positive congenital muscular dystrophy: a large inbred family.

Large families with congenital muscular dystrophy are rare. We report a clinical, histopathological, immunocytochemical, electrophysiological, radiological and genetic study of 10 cases affected by "pure" CMD belonging to two generations of a large inbred Palestinian family. The disease showed autosomal recessive inheritance. All patients had generalised muscular weakness and hypotonia at birth without arthrogryposis. They had a relatively benign clinical course with stabilisation of the clinical picture at different ages and at variable degrees of severity. The pattern of muscle weakness and wasting was more marked in the proximal upper limb-girdle and trunk muscles. Lower limb muscles were more mildly involved. Serum CK was normal or moderately increased. All patients had normal intelligence, normal computed tomography (CT) scans of the brain and normal somatosensory evoked potentials (SEP). Electromyography (EMG) and muscle biopsy showed morphological changes compatible with muscular dystrophy. Immunocytochemistry for dystrophin, laminin alpha 2 of merosin, and for alpha, beta, gamma sarcoglycans was normal. Linkage analysis excluded all the known loci for CMD, including laminin alpha 2 on chromosome 6q2, the Fukuyama congenital muscular dystrophy locus on 9q3, the integrin alpha 7 locus on chromosome 12q13 and the recently identified locus on 1p35-36. The family we present is clinically and genetically distinct from the already mapped forms of congenital muscular dystrophy. Genetic studies are in progress to localise the gene responsible for this condition.

Adolescent↗
PubMedDate not supplied

[Congenital contractural arachnodactyly (CCA syndrome)--an autosomal dominant hereditary connective tissue disease].

Congenital contractural arachnodactyly (CCA syndrome) is an autosomal dominant connective tissue disease which must be distinguished in particular from Marfans' syndrome and the heterogeneous arthrogryposis multiplex congenita. The principal symptoms are multiple congenital contractures with a quite pronounced tendency to regression, scoliosis, dolichostenomelia and arachnodactyly, and malformation of the auricles. The authors report on a young woman (the proposita) and her son, who are typically affected. Observation of the course in these two patients confirms the rule that the condition has a relatively favorable prognosis. The mother of the proposita suffered from dolichostenomelia and arachnodactyly, while congenital contractures and dysmorphous auricles were absent; this could represent a--still hypothetical--mild form of the syndrome. The symptomatology, differential diagnosis, treatment and genetics of the CCA syndrome are discussed in detail with reference to a further 33 cases in the literature.

Adult↗
PubMedDate not supplied

[The Freeman-Sheldon Syndrome].

Freeman-Sheldon syndrome (FSS) or craniocarpotarsal dysplasia is characterized by a triad of symptoms: 1. Masklike, whistling facial expression (whistling face syndrome), 2. Ulnar deviation of digits II to V and adduction contracture of the thumb and 3. Foot deformities. The pathogenesis of this malformation is unknown. Heredity is autosomal dominant and not sex-linked. Genetic counseling of affected individuals is imperative. The differential diagnosis should exclude the possibility of arthrogryposis multiplex congenita and particularly congenital windmill deformity of the fingers, which can also be accompanied by foot deformities. The foot and hand deformities associated with FSS are resistant to treatment and require consistent conservative and operative measures. Multiple, extensive operative interventions were unavoidable in both cases described.

Abnormalities, Multiple↗
PubMed1998

Modified Toupet wrap for gastroesophageal reflux in childhood.

UNLABELLED: It was the aim of our study to follow up our clientele of infants and children who had undergone a partial (posterior) Toupet wrap or modified Toupet wrap. METHODS: All 22 children who had undergone a posterior partial wrap within a 4-year period were followed up for 4.0 years (0.6-5.7 years). 36.4% of children had associated anomalies such as operated esophageal atresia, operated congenital diaphragmatic hernia, Gregg's syndrome or arthrogryposis multiplex congenita. 14% of children suffered from some form of neurological impairment. Prior to operation the 4 main examinations for detection and documentation of gastroesophageal reflux (GER) disease were carried out where possible. Five children underwent Toupet fundoplication and in 17 children a modified Toupet fundoplication with reinforcement of the wrap fixation using a Vicryl-mesh was applied. A pH-metric study and upper gastrointestinal series with reflux testing were done in all 22 children at least 6 months postoperatively. Successful control of GER was documented in 21 of 22 children (95.5%). In the remaining child a reoperation was necessary to correct recurrence of a sliding hiatal hernia and GER. In three children (13.6%) postoperative complications occurred within the first 2 weeks following fundoplication and were managed medically. Following the postoperative 24-hour pH-metric study and the upper gastrointestinal series with reflux testing, one child with normal results at these investigations was lost to follow-up. The remaining 21 children were followed up for another 10 months to 5 years. Four children (18.2%) were found to suffer from functional complications (mild dumping syndrome, retrosternal pain, vomiting during episodes of asthma, dysphagia). No gas bloat syndrome occurred within the follow-up interval and all children were able to belch and vomit. There was no mortality in our limited series. Our series indicates that the partial (posterior) Toupet wrap and the modified Toupet fundoplication are safe and effective procedures for surgical correction of GER in children which preserve the ability of infants and children to belch and vomit.

Adolescent↗
PubMed1994

Congenital muscular dystrophy with distinct CNS involvement.

The sixth child of non-consanguineous parents, who had suffered from severe arthrogryposis syndrome and microcephalia, died at the age of two days. Post-mortem study revealed unique morphological brain anomalies characterized by severe cerebral and cerebellar atrophy, focal cerebral mycrogiria and ectopic masses of immature cells in the periventricular region and cerebral white matter; pachygyria was absent. In addition, muscular examination was consistent with severe muscular dystrophy. These findings suggest that new forms of combined cerebral abnormalities and muscular dystrophy of congenital origin can be recognized in isolated cases.

Autopsy↗