منابع مشابه
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669
Down syndrome (DS), the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. Muscle hypotonia (MH) and congenital heart diseases (CHD) are also frequently observed. Collagen molecules are essential components for maintaining muscle integrity and are formed by the assembly of three chains, alpha 1-3. The type VI collage...
متن کاملCohen syndrome - a rare genetic cause of hypotonia in children.
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...
متن کاملZellweger syndrome: A cause of neonatal hypotonia and seizures.
Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hypotonia, seizures, and hepatomegaly. The diagnosis was not evident initially but only later when ...
متن کاملExplosive onset non-epileptic jerks and profound hypotonia in an infant with Alpers-Huttenlocher syndrome
Alpers-Huttenlocher syndrome (AHS), first described over 80 years ago is an autosomal recessive neurodegenerative disorder characterised by the triad of refractory seizures, neuro-developmental regression and hepatic failure. AHS is now known to be caused by mutations in the gene encoding the catalytic subunit of polymerase gamma (POLG1), an important mitochondrial DNA replication enzyme. The p...
متن کاملThe Accommodation Roles of Arginine in Cerebral Palsy Infants with Muscle Hypotonia
To analyze the relationship between arginine and blood ammonia, nutritional status, immunity, and to explore the regulating function of arginine in cerebral palsy infants with muscle hypotonia. We chose 96 cases with muscle hypotonia cerebral palsy from January 2009 to January 2012 in rehabilitation center of Zhengzhou children hospital as the research object, using the questionnaire survey to ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1991
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-5-6-4