Results 31 to 40 of about 66,364 (302)
Case Report: Potocki-Lupski Syndrome in Five Siblings
Frontiers in Pediatrics, 2021 Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities.
Alina Grama +10 more
doaj +1 more source
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]
, 2015 Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A +6 more
core +1 more source
Do lycra garments improve function and movement in children with cerebral palsy? [PDF]
, 2010 The mother of a 5-year-old boy with athetoid cerebral palsy complains of difficulties putting his Lycra suit on each day. She is keen to know if it actually helps improve his function and movement.
Coghill, J. E., Simkiss, Douglas E.
core +1 more source
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
Molecular Genetics & Genomic Medicine, 2022 Background We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia.
Limor Kalfon +9 more
doaj +1 more source
Frontiers in Genetics, 2022 Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Yun Chen +4 more
doaj +1 more source
Sleep clinical record. what differences in school and preschool children? [PDF]
, 2016 The sleep clinical record (SCR) may be a valid method for detecting children with obstructive sleep apnoea (OSA). This study aimed to evaluate whether there were differences in SCR depending on age and to identify the possible risk factors for OSA ...
Barreto, Mario +6 more
core +2 more sources
Pediatric Glaucoma: a literature's review and analysis of surgical results [PDF]
, 2015 The purpose of this paper is to review the surgical options available for the management of pediatric glaucoma, to evaluate their advantages and disadvantages together with their long-term efficacy, all with the intent to give guidelines to physicians on
IACOVELLO, DANIELA +4 more
core +4 more sources
Demystifying the Mystery of Vitamin B12 Deficiency in an Infant with Developmental Delay
Dubai Medical Journal, 2022 A 7-month-old boy presented to our hospital with complaints of epistaxis. Pancytopenia was found on a blood test, and physical examination was significant for hepatosplenomegaly, acral hyperpigmentation of hands and feet, and hypotonia, along with mild ...
Heba Ali Aldarawsha +3 more
doaj +1 more source
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]
, 2010 Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O +15 more
core +2 more sources
DiagnosticsBackground: Monosomy 18p is a chromosomal disorder resulting from the deletion of the short arm of chromosome 18. While a lot of cases result from the partial deletion of 18p, only a few reported cases are caused by the deletion of the whole short arm of
Bojana Marković +5 more
doaj +1 more source