نتایج جستجو برای: hypotonia
تعداد نتایج: 1818 فیلتر نتایج به سال:
A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported...
Background: Spinal muscular atrophy (SMA) is a genetic motor neuron disease caused by mutations in the SMN1 (Survival Motor Neuron) gene, which leads to hypotonia and muscle weakness with high mortality related respiratory involvement. Gene therapy (GT) (onasemnogeno aberpavovec) for SMA, through an adeno-associated viral vector 9 (AAV9) was recently approved our country, but its safety efficac...
OBJECTIVES To review all patients with SCO2 mutations and to describe a Brazilian patient with cardioencephalomyopathy carrying compound heterozygous mutations in SCO2, one being the known pathogenic p.E140K mutation and the other a novel 12-base pair (bp) deletion at nucleotides 1519 through 1530 (c.1519_1530del). DESIGN Case report and literature review. SETTING University hospital. PAT...
BACKGROUND Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for consideration of phenotypically and genetically heterogeneous disorders such as suspected mitochondrial disease. Here, we report results of WES and functional validation in a consanguineous Indian kindred where two siblings presented with p...
Cohen syndrome is a rare, genetic condition, recessively inherited, associated with specific facial dysmorphism, global developmental delay, hypotonia and ophthalmic abnormalities. A delay in making the diagnosis commonly occurs, because of the lack of a definitive molecular test and also because of the clinical variability of the syndrome. In this paper we describe four cases of Cohen syndrome...
Delayed milestones, generalized hypotonia and nystagmus: hypotonic cerebral palsy or something else?
Camptomelic dwarfism or dysplas1a is a rare syndrome in which· short stature is associated with angulation and bowing of the lower limb Long bones, hypoplasia of the facial bones and scapula and various other skeletal and respiratory and nervous system. A 9 day old girl with this syndrome was admitted in our peiatric Department, Loghman Hospital medical center because of Dwarfism and hypotonia....
Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinidase enzyme is essential for release of biotin from apoenzymes. Absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. Clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impa...
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