Artrogriposa - Signs and symptoms

Mainly boys are affected X-linked recessive diseases.Artrogripoza is detectable at birth or in utero by ultrasound.
Family history:Highlight the child's family medical history artrogripoza and other family members. We are looking for this hiperextensibilitatii, dislocated joints, dislocated hip and foot flat on other family members. It detects a high incidence for people with degree artrogripoza near the patient. Consagvinitatea increases the risk that both parents carry the defective gene. It is more commonly found in families with rare recessive disease than in those frequencies.Some chromosomal abnormalities and maternal age increases dramatically mutations of a single dominant gene with age once the father. Wanted marked variability family, being able to be less affected parent or child had contractures. It emphasized spontaneous abortions and dead fetuses.
Anamnesis pregnancyBabies born to mothers affected by myotonic dystrophy, myasthenia gravis and multiple sclerosis are at risk. congenital myotonic dystrophy, a mother can give birth to a child to inherit the gene and to be severely affected by strong contractions. A mother with myasthenia gravis or multiple sclerosis may have children with congenital contractures. Maternal infections: rubella, Coxsackie virus, enterovirus may lead to destruction of central or peripheral nervous with secondary congenital contractures. Nausea may suggest severe maternal viral infection or encephalitis.
Maternal fever above 39 degrees for an extended period can cause contractions or maternal hyperthermia by migration and abnormal growth of nerves. This disease can be caused by hot baths or saunas and mother. Exposure to teratogens, such as groguri, alcohol, cleaning, and phenytoin metocarbamol lead to a decrease of fetal movements. Oligohidraminosul or chronic loss of amniotic fluid and fetal deformation constraint may lead to secondary contractures. Polihidraminosul suggests fetal damage (defect in swallowing) and is a negative prognostic sign associated with fetal hydrops. The mother is asked about uterine abnormalities such as Seven or Fibroid uterus bicornuat with cancer. She wonders if her mother had Fibroid tumors, severe hypotension or hypoxia during pregnancy.
It highlights the focus moves in a single region of the fetus, decreased fetal movements. Other complications include contractures may be associated with bleeding, abnormal fetal positions, abortion, premature delivery and impending trauma.Abnormal fetal position may be indicative of intrauterine joint contractures.
Anamnesis of Birth:Delivrentei history is atypical or abnormal fetal presentation because of the difficulty in determining fetal joints. Transverse fetal position is fairly common. The duration of pregnancy is normal, but is prolonged induction. A member may be fractured during trauma delivrentei to 10% of cases. Check abnormal placental membranes or umbilical insertion in cases involving amniotic bands or vascular disease. The umbilical cord may be shortened or wrapped around a member, leading to compression.
Artrogripoza epidemic was reported but it is unknown if this phenomenon is due to infection, is accidental or caused by external factors. In multiple pregnancies due to traffic congestion, lack of fetal movements may cause contractions. Death of a twin may lead to vascular compromise to the remaining twin.
Physical Exam:Although joint contractures and associated clinical manifestations vary from case to case there are some common characteristics:Extremities are affected spindle-shape or cilindroce with thin or absent subcutaneous tissue-Deformations are symmetric and increasing severity of distal arms and legs being more affected-Is this stiffness-Patient may present especially joint dislocation of the hip and knee-Atrophy is present, and some muscles absent-Touch is intact although deep tendon reflexes are diminished or absent.
Contractures:Distal joints are affected more often than the proximal. Note the extension versus flexion, limiting movements (versus passive fixation) and the characteristic resting position. It makes the distinction between complete fusion or ankylosis and soft tissue contractures. Temporomandibular joint movement is limited.Derived intrinsic contractures are associated with polihidraminos, contractures are accompanied by symmetric and stretched skin, around joints and lack pterigia flexion. Risk of recurrence depends on the etiology and progression. Derived extrinsic contractures are associated with abnormal limb position, large ears, skin and lack of excessive or normal flexion. Patients have excellent prognosis and low risk of recurrence.
Deformation:Pterigium include limb deformities, shortening, rings, compression, absent patella, dislocated radial head and the grooves. Facial deformities include asymmetry, hemangiomas payment and nose root. Mandibular deformities include trismus and micrognathia.Other deformities include scoliosis, genital abnormalities (criptoorhidism lack labia, microfalus) and hernia (inguinal, umbilical). Other features include akineziei fetal intrauterine growth retardation, pulmonary hypoplasia and craniofacial anomalies such as hypertelorism, cleft palate, depressed nose, high nasal root, problems of food and short umbilical cord. Folds are the result of absent or diminished form or aberrant function of the hand or foot development.
Birth:Craniofacial malformations may involve the brain (structural defects, seizures, mental retardation), skull (craniostoza, asymmetry, microcephaly), eyes (small eyes, corneal opacities, ptosis, strabismus) and palace (cleft). Respiratory problems include cleft and laryngeal and tracheal stenosis. Hypoplasia, hypoplastic diaphragm muscles weak or affect respiratory function.Deletion anomalies include limb malformations, radioulnara synostosis, sindactilie and short fingers. Vasculaturii anomalies and hemangiomas can cause cutis skin mottled, distal limbs may be blue and cold.
Include congenital heart problems and cardiomyopathy. Kidneys, ureters and bladder may be structural anomalies. Nervous Sisitemul shows lack vigor, lethargy, slow tendon reflexes, rapid or absent and sensory deficits. Malformations include reducing muscle muscle, soft texture of the muscles, fibrous bands, anomalous tendons and muscles, changes in time.
Connective tissue abnormalities:Skin-pterigia rings crossing joints with limitation of movement are common. The grooves are common skin over joints with limited motion. The skin may be soft, thick, pasty or sofa. Suncutanata is low or high fat. Are inguinal hernias, umbilical or diaphragmatic.Simfalangismul and tendons attach anomalies are common.Associated defects include defects of the scalp skin, amniotic bands on the limbs and defects of the nail. Pretibial linear Identatiile may be a sign of autosomal recessive inheritance or even a sign of increased risk of recurrence.
Disease progression:The life of affected patients depends on disease severity and associated malformations, but is usually normal. Over 50% of patients with impaired mebrelor central nervous system dysfunction and die within the first year of life. Scoliosis can affect respiratory function.