Hydranencephaly
Fetal Movement
Oligohydramnios
Joint Capsule
Abnormalities, Multiple
Malformations of Cortical Development
Whence the arthrogrypotics? (1/125)
During the course of a nation-wide survey of patients with bone and joint deformities, twenty-six individuals with arthrogryposis multiplex congenita, in the narrow and precise sense of the term, were investigated. No patient was more than twenty-four years of age. However, on a basis of the figures of population, it can be estimated that 21-0 +/- 6-5 older affected individuals should have been encountered. Furthermore, there was a relative excess of younger children. The series was reasonably unbiased, and as arthrogryposis is non-lethal the deficiency of affected adults is an anomalous finding. It is tentatively suggested that arthrogryposis might result from the intra-uterine influence of an unknown environmental agent which has been present in South Africa for only a limited period of time. Detection of this factor could be an important step in the prevention of the disease. (+info)Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. (2/125)
Arthrogryposis multiplex congenita (AMC) is characterized by fixed joint contractures and other deformities, sometimes resulting in fetal death. The cause is unknown in most cases, but some women with fetuses affected by severe AMC have serum antibodies that inhibit fetal acetylcholine receptor (AChR) function, and antibodies to fetal antigens might play a pathogenic role in other congenital disorders. To investigate this possibility, we have established a model by injecting pregnant mice with plasma from four anti-AChR antibody-positive women whose fetuses had severe AMC. We found that human antibodies can be transferred efficiently to the mouse fetus during the last few days of fetal life. Many of the fetuses of dams injected with AMC maternal plasmas or Ig were stillborn and showed fixed joints and other deformities. Moreover, similar changes were found in mice after injection of a serum from one anti-AChR antibody-negative mother who had had four AMC fetuses. Thus, we have confirmed the role of maternal antibodies in cases of AMC associated with maternal anti-AChR, and we have demonstrated the existence of pathogenic maternal factors in one other case. Importantly, this approach can be used to look at the effects of other maternal human antibodies on development of the fetus. (+info)Combined cuboid/cuneiform osteotomy for correction of residual adductus deformity in idiopathic and secondary club feet. (3/125)
We used a combined cuboid/cuneiform osteotomy to treat residual adductus deformity in idiopathic and secondary club feet. The mean follow-up for 27 feet (22 idiopathic, four arthrogrypotic and one related to amniotic band syndrome) was 5.0 years (2.0 to 9.8). All healed uneventfully except for one early wound infection. No further surgery was required in the 22 idiopathic club feet but four of five with secondary deformity needed further surgery. At follow-up all patients with idiopathic and two with secondary club feet were free from pain and satisfied with the result. In the idiopathic feet, adductus of the forefoot, as measured by the calcaneal second metatarsal angle, improved on average from 20.7 +/- 2.0 degrees to 8.9 +/- 1.8 degrees (p < 0.05). In four feet, with a follow-up of more than six years, there was complete recurrence of the deformity. In the secondary club feet, there was no improvement of the adductus. We conclude that in most, but not all, idiopathic club feet a cuboid/cuneiform osteotomy can provide satisfactory correction of adductus deformity. Those with secondary deformity require other procedures. (+info)Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome. (4/125)
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. (+info)Detection of Akabane viral antigens in spontaneous lymphohistiocytic encephalomyelitis in cattle. (5/125)
A 5-month-old Japanese black bull calf and twenty-seven 1-27-day-old calves exhibiting neurological signs between August and October 1998 were examined. The bull calf exhibited rapid breathing, fever, hypersensitivity, and ataxia and was euthanized 4 days after the onset of symptoms. The 27 calves primarily exhibited ataxia, and 15 had arthrogryposis. Histological examination of the bull calf revealed perivascular infiltraction by mononuclear cells, diffuse to multifocal gliosis, and neuronal necrosis in the brain and spinal cord. Multiple malacic foci were found in the midbrain in 5 cases. In contrast, in the 15 calves necropsied in October, there were fewer inflammatory changes, but there was neuronal cell loss in the ventral horn and a decrease in myelinated axons in the lateral and ventral funiculi. Immunohistochemical examination using a rabbit antiserum against Akabane virus strain OBE-1 revealed a large amount of viral antigen in the degenerating neurons and glial cells of the bull calf, mainly in the spinal gray matter. Small amounts of viral antigen in swollen axons and a few glial cells were found in 5 of 27 calves. Thirteen of the 27 calves had high neutralization antibody titers against the Akabane virus, whereas there was no significant antibody titer in most of the calves necropsied during August. The present study revealed that viral antigen detection was very useful for the diagnosis of Akabane diseases in the 5-month-old bull calf that was suspected to be infected postnatally, while it had limited usefulness in the other young calves. (+info)Pena-Shokeir phenotype with variable onset in three consecutive pregnancies. (6/125)
The Pena-Shokeir phenotype represents an autosomal recessive syndrome characterized by neurogenic arthrogryposis, facial anomalies and pulmonary hypoplasia. Prenatal diagnosis of this disease has been reported prospectively and in cases with positive family history. We describe here a patient who has had three consecutive pregnancies affected by the Pena-Shokeir syndrome. In these pregnancies, the onset of the arthrogryposis varied between the 12th and the 18th week of gestation. Therefore, the possibility of a variable chronological development of the main diagnostic feature of the syndrome, arthrogryposis, has to be taken into proper consideration while counseling families with a positive history for the Pena-Shokeir phenotype. (+info)Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. (7/125)
Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita. Neuromuscular disorders are among the many different causes of reduced fetal movement. Many congenital myasthenic syndromes (CMSs) are due to mutations of the adult-specific epsilon subunit of the acetylcholine receptor (AChR), and, thus, functional deficits do not arise until late in gestation. However, an earlier effect on the fetus might be predicted with some defects of other AChR subunits. We studied a child who presented at birth with joint contractures and was subsequently found to have a CMS. Mutational screening revealed heteroallelic mutation within the AChR delta subunit gene, delta 756ins2 and delta E59K. Expression studies demonstrate that delta 756ins2 is a null mutation. By contrast, both fetal and adult AChR containing delta E59K have shorter than normal channel activations that predict fast decay of endplate currents. Thus, delta E59K causes dysfunction of fetal as well as the adult AChR and would explain the presence of joint contractures on the basis of reduced fetal movement. This is the first report of the association of AChR gene mutations with arthrogryposis multiplex congenita. It is probable that mutations that severely disrupt function of fetal AChR will underlie additional cases. (+info)The treatment of recurrent arthrogrypotic club foot in children by the Ilizarov method. A preliminary report. (8/125)
Between 1994 and 1997 we used the Ilizarov apparatus to treat 12 recurrent arthrogrypotic club feet in nine patients with a mean age of 5.3 years (3.2 to 7). After a mean of three weeks (two to seven) for correction of the deformity and 1.5 weeks (one to four) for stabilisation in the apparatus, immobilisation in a cast was carried out for a mean of 14 weeks (7 to 24). The mean follow-up period was 35 months (27 to 57). Before operation there were one grade-II (moderate), eight grade-III (severe) and three grade-IV (very severe) club feet, according to the rating system of Dimeglio et al. After operation, all the club feet except one were grade I (benign) with a painless, plantigrade platform. Radiological assessment and functional evaluation confirmed significant improvement. Two complications occurred in one patient, namely, epiphysiolysis of the distal tibia and recurrence of the foot deformity. These results suggest that our proposed modification of the Ilizarov technique is effective in the management of recurrent arthrogrypotic club foot in young children. (+info)Arthrogryposis is a medical term that describes a condition characterized by the presence of multiple joint contractures at birth. A contracture occurs when the range of motion in a joint is limited, making it difficult or impossible to move the joint through its full range of motion. In arthrogryposis, these contractures are present in two or more areas of the body.
The term "arthrogryposis" comes from two Greek words: "arthro," meaning joint, and "gyros," meaning curved or bent. Therefore, arthrogryposis literally means "curving of the joints."
There are many different types of arthrogryposis, each with its own specific set of symptoms and causes. However, in general, arthrogryposis is caused by decreased fetal movement during pregnancy, which can be due to a variety of factors such as genetic mutations, nervous system abnormalities, or environmental factors that restrict fetal movement.
Treatment for arthrogryposis typically involves a combination of physical therapy, bracing, and surgery to help improve joint mobility and function. The prognosis for individuals with arthrogryposis varies depending on the severity and type of contractures present, as well as the underlying cause of the condition.
Hydranencephaly is a rare congenital condition in which the cerebral hemispheres of the brain are absent and replaced by sacs filled with cerebrospinal fluid (CSF). The cerebral cortex and other parts of the brain may be partially or completely missing. It is often caused by vascular insults or infections, such as ischemia or meningitis, during fetal development.
The condition can vary in severity, but it is generally associated with severe neurological impairment and physical disabilities. Infants with hydranencephaly may have a normal appearance at birth, but they often develop seizures, hydrocephalus, and other symptoms within the first few months of life. The prognosis for individuals with hydranencephaly is generally poor, and many do not survive beyond early childhood.
Clubfoot, also known as talipes equinovarus, is a congenital foot deformity where the foot is twisted inward and downward. The affected foot appears to be turned inward and downward, resembling a club or a bowling pin. This condition usually affects one foot but can occur in both feet as well.
The cause of clubfoot is not fully understood, but it is believed to be a combination of genetic and environmental factors. Clubfoot is often diagnosed at birth or during routine prenatal ultrasound exams. Treatment for clubfoot typically involves nonsurgical methods such as stretching, casting, and bracing to gradually correct the position of the foot over time. In some cases, surgery may be required to release tight tendons and realign the bones in the foot and ankle.
If left untreated, clubfoot can lead to significant mobility issues and difficulty walking or participating in activities. However, with early intervention and consistent treatment, most children with clubfoot are able to lead active and normal lives.
Fetal movement, also known as quickening, refers to the first perceived movements of the fetus in the uterus during pregnancy. These movements are often described as a fluttering sensation in the lower abdomen and are usually felt by pregnant individuals between 18 and 25 weeks of gestation, although they may occur earlier or later depending on various factors such as the position of the placenta and whether it is a first-time pregnancy.
Fetal movements are an important sign of fetal well-being, and pregnant individuals are typically advised to monitor them regularly starting from around 28 weeks of gestation. A decrease in fetal movement or the absence of fetal movement for an extended period may indicate a problem and should be reported to a healthcare provider immediately.
Fetal movements can be described as kicks, rolls, jabs, or turns, and they become stronger and more frequent as the pregnancy progresses. By 32 weeks of gestation, most fetuses move around 10 times per hour, and by 37 weeks, they typically move around 30 times per day. However, it is important to note that every fetus has its own pattern of movements, and what is normal for one may not be normal for another.
Oligohydramnios is a medical condition that refers to an abnormally low amount of amniotic fluid surrounding the fetus in the uterus during pregnancy. The amniotic fluid is essential for the protection and development of the fetus, including lung maturation and joint mobility. Oligohydramnios is often diagnosed through ultrasound measurements of the pocket depth of the amniotic fluid and is defined as an amniotic fluid index (AFI) of less than 5 cm or a single deepest pocket (SDP) of less than 2 cm after 24 weeks of gestation.
The condition can be caused by various factors, such as fetal growth restriction, maternal high blood pressure, placental insufficiency, rupture of membranes, and genetic disorders. Oligohydramnios may increase the risk of complications during pregnancy and childbirth, including preterm labor, fetal distress, and stillbirth. The management of oligohydramnios depends on the underlying cause and gestational age, and may include close monitoring, delivery, or treatment of the underlying condition.
Bunyaviridae is a family of viruses that includes several genera capable of causing human disease. These viruses are primarily transmitted to humans through the bite of infected arthropods, such as mosquitoes and ticks, or through contact with infected rodents or their excreta.
Some of the diseases caused by Bunyaviridae infections include:
1. Hantavirus Pulmonary Syndrome (HPS): This is a severe, sometimes fatal, respiratory disease caused by hantaviruses. It is transmitted to humans through contact with infected rodents or their urine and droppings.
2. Crimean-Congo Hemorrhagic Fever (CCHF): This is a serious and often fatal viral hemorrhagic fever caused by the CCHF virus. It is primarily transmitted to humans through the bite of infected ticks, but can also be spread through contact with the blood or tissue of infected animals.
3. Rift Valley Fever (RVF): This is a viral disease that primarily affects animals, but can also infect humans. It is transmitted to humans through contact with the blood or tissue of infected animals, or through the bite of infected mosquitoes.
4. La Crosse Encephalitis: This is a viral disease transmitted to humans through the bite of infected mosquitoes. It primarily affects children and can cause inflammation of the brain (encephalitis).
5. Toscana Virus Infection: This is a viral disease transmitted to humans through the bite of infected sandflies. It can cause symptoms such as fever, headache, and meningitis.
Prevention measures include avoiding contact with rodents and their excreta, using insect repellent and wearing protective clothing to prevent mosquito and tick bites, and seeking prompt medical attention if symptoms of a Bunyaviridae infection develop.
A joint capsule is the fibrous sac that encloses a synovial joint, which is a type of joint characterized by the presence of a cavity filled with synovial fluid. The joint capsule provides stability and strength to the joint, while also allowing for a range of motion. It consists of two layers: an outer fibrous layer and an inner synovial membrane. The fibrous layer is made up of dense connective tissue that helps to stabilize the joint, while the synovial membrane produces synovial fluid, which lubricates the joint and reduces friction during movement.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.
Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.
Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.
The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.
Malformations of Cortical Development (MCDs) are a group of congenital brain abnormalities that occur during the development and organization of the cerebral cortex, which is the brain region responsible for higher cognitive functions. These malformations result from disruptions in neuronal migration, proliferation, or organization, leading to varying degrees of cortical thickness, folding, and structural integrity.
MCDs can be classified into several subtypes based on their distinct neuroimaging and histopathological features. Some common MCD subtypes include:
1. Lissencephaly (smooth brain): A severe malformation characterized by the absence of normal gyral and sulcal patterns, resulting in a smooth cortical surface. This is caused by defects in neuronal migration during early development.
2. Polymicrogyria (many small folds): A condition where the cortex has an excessive number of small, irregular gyri, leading to thickened and disorganized cortical layers. This can be focal or diffuse and is caused by abnormal neuronal migration or organization during mid to late development.
3. Schizencephaly (cleft brain): A malformation characterized by a linear cleft or gap in the cerebral cortex, extending from the pial surface to the ventricular system. This can be unilateral or bilateral and is caused by disruptions in neuronal migration and/or cortical organization during early development.
4. Heterotopias (misplaced cells): A condition where groups of neurons are abnormally located within the white matter or at the gray-white matter junction, instead of their normal position in the cerebral cortex. This can be focal or diffuse and is caused by defects in neuronal migration during early development.
5. Focal cortical dysplasia (abnormal localized tissue): A condition characterized by abnormal cortical architecture, including disorganized lamination, enlarged neurons, and heterotopic neurons. This can be focal or multifocal and is caused by defects in cortical organization during late development.
MCDs are often associated with neurological symptoms such as epilepsy, intellectual disability, motor deficits, and behavioral abnormalities. The severity of these symptoms depends on the type, location, and extent of the malformation.
Arthrogryposis