Lamé is also used for its conductive properties in the sport of fencing to make the overjackets (called lamés) that allow touches to be scored. It is a favourite material in futuristic costumes and spacesuits for science fiction television and films. Lamé is often used in evening and dress wear and in theatrical and dance costumes. Imperfectly without a complete exhibition of parts as a figure lamely drawn a scene lamely described. Īn issue with lamé is that it is subject to seam or yarn slippage, making it less than ideal for garments with frequent usage. Common examples are tissue lamé, hologram lamé and pearl lamé. Lamé comes in different varieties, depending on the composition of the other threads in the fabric. It is usually gold or silver in color sometimes copper lamé is seen. Lamé ( / l ɑː ˈ m eɪ/ lah- MAY) is a type of fabric woven or knit with thin ribbons of metallic fiber, as opposed to guipé, where the ribbons are wrapped around a fibre yarn. The functional prognosis depends on the severity of intellectual disability.Gold-lamé and emerald royal boudoir gown from the film Cleopatra (1934) Life expectancy of individuals with LAMSHF does not seem to be affected. Management of patients requires medical and social care as for other patients with intellectual disability, including special schooling, speech therapy, etc. There is no specific treatment for LAMSHF. Genetic counseling should be offered to i) couples with an affected child informing them that there is a risk of having another affected child, ii) affected individuals informing them that there is a 50% risk of transmission. The disorder is autosomal dominant and whilst most cases arise sporadically, parental mosaicism is not exceptional. Prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member. developmental disorders with mild-to-moderate intellectual disability and mild morphological features. Many differential diagnoses may be considered, i.e. LAMSHF diagnosis may be suspected on clinical presentation and confirmed by micro-array analysis ( SOX5 deletion) or sequencing of SOX5 (gene panel, exome sequencing, genome sequencing). Points variants are either truncating variants or missense variants affecting functional domains of the protein. LAMSHF is an autosomal dominant disorder caused by haplo-insufficiency of the SOX5 gene (12p12.1) due to either a 12p12.1 microdeletion encompassing the gene or heterozygous point variants. Malformations of organs are infrequent, skeletal malformations mainly involve the spine (scoliosis, thoracic kyphosis, fused cervical vertebrae).
#Lame definicion full
Mild dysmorphological features are noted in most patients, including broad/full nasal tip, thin upper lip or full lips, small jaw or chin, strabismus, long face and/or epicanthus.
Lame dargent, dor, de plomb lame de bois, décaille, divoire. Height, weight and occipitofrontal circumference are within normal ranges. Bande mince, plate, de forme allongée, faite de métal ou dune matière dure, et servant à différents usages.
Seizures may occur but epilepsy is relatively infrequent (<10%). Behavioral disturbances are frequent, including autism spectrum disorder, stereotypies, isolation, tantrums and hyperactivity. In older children, mild-to-moderate intellectual disability is the main clinical feature, with some patients having either more severe or milder cognitive impairment. Developmental delay (delayed independent walking and speech) and truncal hypotonia during infancy are the usual first manifestations. In most cases, pregnancy and delivery are unremarkable and the neonatal period is uneventful. Lamb-Shaffer syndrome (LAMSHF) is a rare disorder reported in less than 100 patients worldwide.
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