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At least 811 records · Page 45Linked to original sources
PubMed1990

Monochorionic diamniotic minimally conjoined twins: a case report.

We present the second case of monochorionic diamniotic (MC/DA) conjoined twins. There was minimal conjunction, which was predominantly extrafetal and confined to the periumbilical ventral region. The omphalopagus twins, attached to a single forked umbilical cord, were connected by a shared umbilical hernia containing the ileum of twin B. The only visceral conjunction, located just within the belly of twin A, was midileal with the 2 separate ileums converging toward a short segment of shared muscularis propria and of side-to-side fistulization. Gastrointestinal and musculoskeletal anomalies were present in both twins with severe amyoplasia and arthrogryposis multiplex in twin A. Possible mechanisms underlying this unusual form of MZ twinning are discussed.

Abnormalities, Multiple↗
PubMed2006

Muscle involvement and motor function in amyoplasia.

The most common form of arthrogryposis multiplex congenita (AMC) is amyoplasia. Diagnostic criteria are highly specific, with decreased muscle mass, typical contractures and limb positioning at birth. Intellectual development is normal. The aims of this study were to investigate how muscle strength and contractures affect motor function in amyoplasia, and to relate current functional status to joint positions at birth. Medical records were reviewed and a clinical examination was performed, with investigation of muscle strength, range of motion, and motor function. Thirty-five patients with amyoplasia participated and were divided into three functional groups: 11 community ambulators, 11 household ambulators, and 7 non-ambulators. Six children less than 2 years old were not categorized. Community ambulators had the best muscle strength and none had knee flexion contractures extending 20 degrees. Household ambulators had severe contractures in the lower limbs, but good muscle strength in the upper limbs. Non-ambulators had most severe contractures and most severely reduced muscle strength. Most of the non-ambulators were born with hips in severe abduction, flexion and external rotation. Good and very good correlations were found between muscle strength and motor function, and only moderate correlations between range of motion and motor function. We conclude that more attention should be paid to developing muscle strength, with early stimulation of active movement, and that periods of immobilization should be minimized. Further, ultrasound or MRI of muscle tissue in the newborn period would be useful to evaluate prerequisites for future development of muscle strength and thereby anticipate response to therapy.

Adolescent↗
PubMedDate not supplied

Searching for genetic markers for hereditary diseases in cattle by means of DNA fingerprinting.

Losses caused by inherited diseases affect not only the breeder's income but also the breeding programs themselves. In Switzerland the cardiomyopathy of cattle and the syndrome of arachnomelia and arthrogryposis are currently being investigated in order to find genetic markers for these diseases. It seems that DNA fingerprinting with multilocus probes is the most efficient approach available at present. Microsatellites analyzed with the polymerase chain reaction technique will provide a usable marker map within the next ten years and will therefore provide a perfect tool to find markers for hereditary diseases.

Animals↗
PubMed2005

Early ultrasonographic changes in Fowler syndrome features and review of the literature.

BACKGROUND: Fowler syndrome is characterized by hydranencephaly, brain stem and basal ganglion calcifications, a glomeruloid vasculopathy of the brain vessels, and a fetal akinesia deformation sequence with muscular hypoplasia. The natural progression of the ultrasonographic features of Fowler syndrome has never been described. METHODS: Case report and review of the literature. RESULTS: A primiparous woman with a negative ultrasound at 11 weeks of pregnancy was noted at 15 weeks to have fetal nuchal thickening, generalized skin edema, prominent lateral ventricles, akinesia with arthrogryposis, and pterygia. At 18 weeks, a cystic hygroma with facial edema, hypertelorism, and hydrocephaly were noted; the limb deformity was still evident. Within 1 week, the cystic hygroma regressed partially, but the hydrocephaly deteriorated. CONCLUSION: The multiple ultrasonographic features of Fowler syndrome may not occur simultaneously and their severity may vary with gestational age.

Abnormalities, Multiple↗
PubMed1995

Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy.

This report describes the early prenatal diagnosis of the Pena Shokeir phenotype in an at-risk patient at 14 weeks' gestation. The diagnosis was based on an abnormal fetal movement profile, in association with an abnormal position of the fetal limbs. Pena Shokeir phenotype describes an inherited condition characterized by arthrogryposis and dysmorphic features as a result of fetal akinesia. It is a lethal abnormality and early diagnosis allows safer surgical methods of termination.

Abnormalities, Multiple↗
PubMed2005

Prenatal diagnosis of Bruck syndrome.

Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself.

Abortion, Induced↗
PubMed1982

Teratogens associated with congenital contractures in humans and in animals.

An evaluation of over 350 patients in a study of congenital contractures of the joints (arthrogryposis) included a review of family, pregnancy, and delivery histories for teratogenic exposures. Fifteen out of the total 350 patients studied had a possible teratogenic exposure: an infectious agent (viral or bacterial), maternal drug or toxin ingestion, chronic maternal neurologic or muscular illness, or a direct physical insult such as a structural uterine anomaly. Literature was reviewed for all human and animal cases reported with congenital contractures of the joints with an associated teratogenic insult. Those findings are discussed here.

Animals↗
PubMed1984

Enhanced visualization of soft tissues in the study of aborted fetuses through the use of xeroradiography.

As part of the diagnostic workup following an episode of fetal loss, it is generally recommended that fetal tissue be submitted for chromosome analysis and that the fetus be photographed and radiographed. Our recent clinical experience has suggested that, in those fetuses where size is compatible, xeroradiography may be superior to standard radiography. Xeroradiography utilizes principles similar to those in film radiology, with low-energy photon beams and relatively long exposure times. The physical characteristics of the beam and imaging system provide optimal soft tissue visualization. We have found this technique to be of use in studying a broad variety of abortuses with abnormalities. Examples of fetal abnormalities in which we have used this technique include acardia, neural tube defects, nuchal cystic hygroma, and arthrogryposis. In fetuses weighing 500-1,000 gm, the exposure settings are 25 MA, 1 second, 40 KVP. For larger fetuses the KVP should be increased by 1 or 2. This technique has not been useful for a complete body view of large fetuses due to the size limitations of the xeroradiographic cassette itself.

Anencephaly↗
PubMed1991

Radiographic changes in arthrogrypotic knees.

We evaluated the knees of 62 patients with arthrogryposis multiplex congenita radiographically. Abnormal radiographs were noted in 34. The abnormalities consisted of both congenital and chronic changes secondary to long-standing clinical deformities including patellar elongation, malposition, flattening of the femoral condyles, joint incongruity, tibial plateau irregularities, tibial and femoral fractures, fibula hypoplasia, soft-tissue thickening, valgus deformity, and dislocation. The radiographic findings were consistent with the degree of longstanding physical deformity and can be used as a guide to the severity of the condition and the need for treatment.

Arthrogryposis↗
PubMed1984

Paralytic deformities of the lower limb.

Deformity may occur in any paralytic condition in childhood. It develops after birth in poliomyelitis, cerebral palsy, hereditary neuropathies and muscular dystrophies or before birth in spina bifida, spinal agenesis and arthrogryposis. Paralytic deformities arise primarily in muscles and their tendons, and are due to diminished musculo-tendinous growth associated with unbalanced muscle action. Their inexorable progress is only controlled effectively by surgical correction of tendon length and muscle imbalance. The paralysis needs to be assessed according to the specific type of paralytic lesion, and surgical treatment applied with due reference to ultimate function in adult life.

Adolescent↗
PubMed1978

Involvement of the larynx in a congenital "myopathy", unilateral aplasia of the arytenoid, micrognathia, and malformation of the brain--a new syndrome?

Neuromyopathic changes were found in various limb muscles and in intrinsic laryngeal muscles of a two month old girl. She had been noted to have micrognathia, arthrogryposis and congenital stridor and died as a result of respiratory insufficiency and aspiration. Autopsy revealed an absent left arytenoid cartilage and severe histogenic abnormalities of the brain. Although the muscles involved showed a mainly myopathic pattern, marked signs of peripheral neurogenic involvement were present. These differed from motor neuron disease or aplasia of anterior horn cells. These findings cast a new light on the discussion of unclassified congenital myopathy resembling the picture of congenital muscular "dystrophy". This is the first case of congenital neuromyopathy in which involvement of intrinsic laryngeal muscles has been demonstrated morphologically.

Arthrogryposis↗
PubMed1983

Ultrastructural abnormalities of muscle and neuromuscular junction differentiation in a bovine congenital neuromuscular disease.

The syndrome of arthrogryposis and palatoschisis (SAP), an inherited syndrome of muscular hypotonia in Charolais cattle, was used as an experimental model to study neuromuscular differentiation. The ultrastructural development of muscle, peripheral nerve, and neuromuscular junctions was studied to determine the sequence of events preceding hypotrophic changes in the skeletal muscles of affected calves at birth. Dorsiflexion of the metatarsophalangeal joints in the hindlimbs occurred in fetuses older than 3 months of age, but hypotrophic changes in skeletal muscle, manifested as small fibers scattered among larger and occasional degenerating fibers, was not apparent until late in gestation, affecting 8-month-old fetuses and neonatal calves. Electron microscope and enzyme histochemistry studies disclosed differentiation of skeletal muscle into fiber types which is consistent with changes expected from disuse and does not indicate a primary myopathic abnormality. Abnormal differentiation of neuromuscular junctions (NMJ), composed of several separated axonal endings terminating in shallow synaptic gutters, indicated impaired maturation of the synapse. The earliest indication of abnormal NMJ was observed in a 5-month-old SAP fetus. The clinical signs and pathologic changes found in the neuromuscular junction and skeletal muscle of SAP fetuses are consistent with an embryologic defect occurring during development of the central nervous system (CNS) that affects the integrated function of the motor neurons to the limbs. However, diversification of myofibers by histochemistry and ultrastructural parameters is evidence that the intrinsic physiologic properties of spinal motor neurons were retained.

Animals↗
PubMed1983

Lipid storage myopathy associated with scoliosis and multiple joint contractures.

Two patients with cleft palate, clubfoot, congenital scoliosis, and arthrogryposis multiplex congenita showed increased numbers of lipid droplets in biopsied muscle fibers. There was little abnormality in the mitochondrial morphology of the muscle and the results of blood chemistry including carnitine concentrations. Accumulation of large lipid droplets, increased amount of glycogen and a decreased number of mitochondria were observed in chondrocytes from the biopsied iliac crest cartilage of these patients. It was suggested that the present cases might belong to a previously unknown clinico-pathological entity of myopathies.

Arthrogryposis↗
PubMed1993

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.

Abnormalities, Multiple↗
PubMed1977

Malignant hyperthermia and althesin.

General anaesthesia with Althesin was administered on two occasions to a patient who was identified as susceptible to malignant hyperthermia, in whom there was identified familial subclinical myopathy and once in another patient suffering from arthrogryposis multiplex congenita with a history of fever associated with two previous anaesthetics. In the first patient halothane was administered by accident in association with the Althesin, but no hyperpyrexia occurred. In the second instance nitrous oxide-oxygen and halothane were associated purposely with Althesin. In none of these cases was there any rise in temperature, muscle rigor or elevation of the serum CPK level. This experience corroborates the experimental evidence of Hall, et al.10 and Harrison, who reported that Althesin prevented the onset of hyperthermia, and the clinical reports of Page and Judelman. Althesin can be assumed to be an effective anaesthetic for malignant hyperthermia susceptible patients.

Alfaxalone Alfadolone Mixture↗
PubMed2006

Clinical and molecular genetic features of ARC syndrome.

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (MIM 208085) is an autosomal recessive multisystem disorder that may be associated with germline VPS33B mutations. VPS33B is involved in regulation of vesicular membrane fusion by interacting with SNARE proteins, and evidence of abnormal polarised membrane protein trafficking has been reported in ARC patients. We characterised clinical and molecular features of ARC syndrome in order to identify potential genotype-phenotype correlations. The clinical phenotype of 62 ARC syndrome patients was analysed. In addition to classical features described previously, all patients had severe failure to thrive, which was not adequately explained by the degree of liver disease and 10% had structural cardiac defects. Almost half of the patients who underwent diagnostic organ biopsy (7/16) developed life-threatening haemorrhage. We found that most patients (9/11) who suffered severe haemorrhage (7 post biopsy and 4 spontaneous) had normal platelet count and morphology. Germline VPS33B mutations were detected in 28/35 families (48/62 individuals) with ARC syndrome. Several mutations were restricted to specific ethnic groups. Thus p.Arg438X mutation was common in the UK Pakistani families and haplotyping was consistent with a founder mutation with the most recent common ancestor 900-1,000 years ago. Heterozygosity was found in the VPS33B locus in some cases of ARC providing the first evidence of a possible second ARC syndrome gene. In conclusion we state that molecular diagnosis is possible for most children in whom ARC syndrome is suspected and VPS33B mutation analysis should replace organ biopsy as a first line diagnostic test for ARC syndrome.

Abnormalities, Multiple↗
PubMed1996

Fetal seizures: further observations.

BACKGROUND: Previous reports of ultrasonographically diagnosed seizure activity in utero have described fetuses with obvious, gross, tonic-clonic movements of trunk and extremities. CASES: Three fetuses with akinesia deformation sequence are described: two with arthrogryposis multiplex congenita and one with Pena-Shokeir syndrome. Each was demonstrated by serial real-time ultrasound examinations to have joint contractures, absent fetal breathing motions, and lack of gross movements other than sonographically evident subtle seizure activity. CONCLUSION: Fetal seizure activity can be subtle when seen in the presence of fetal anomalies that limit joint movement. The prognosis remains poor.

Abnormalities, Multiple↗
PubMed1990

Evidence that Cache Valley virus induces congenital malformations in sheep.

An outbreak of congenital abnormalities occurred in sheep at San Angelo, Texas, between December 1986 and February 1987. Of 360 lambs born, 19.2% had arthrogryposis or other musculo-skeletal problems and hydranencephaly (AGH), and the total neonatal loss was 25.6%. In 1987, all ewes that were tested with AGH lambs had antibody to Cache Valley virus (CVV), whereas 62% of the ewes with normal lambs had CVV-specific antibody. Pre-colostral serum samples from AGH lambs had neutralizing antibody to CVV. An increase in prevalence of CVV-specific antibody, from 5% during the spring of 1986 to 63.4% during the winter of 1987, occurred during a time that included the gestation of these affected lambs, as well as a period of increased rainfall. The isolation of a CVV-related strain from a sentinel sheep in October 1987 confirmed the continued presence of this virus in the pasture where this outbreak occurred and provided a recent field strain for future studies.

Animals↗