Results 21 to 30 of about 52,839 (293)
Molecular Cytogenetics, 2011 Background Genotype-phenotype correlations for chromosomal imbalances are often limited by overlapping effects of partial trisomy and monosomy resulting from unbalanced translocations and by poor resolution of banding analysis for breakpoint designation.
Weimer Jörg +6 more
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Hypotonia in Kwazulu Natal - prevalence and causes [PDF]
, 2006 Benign Congenital Hypotonia (BCH) is a condition whose specific diagnosis and causes are elusive. Time and intensive diagnostic screening allows for unmasking of a specific diagnosis in some cases.
T. Puckree, P. M. T. Dawson
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Congenital hypotonia with favorable outcome
, 2002 Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the ...
CRESCENZI A +3 more
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Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1,
Ankur Singh +3 more
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Case report: The art of anesthesiology—Approaching a minor procedure in a child with MPI-CDG
Frontiers in Pharmacology, 2022 Background: Protein glycosylation plays an important role in post-translational modification, which defines a broad spectrum of protein functions.
En-Che Chang +7 more
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Congenital muscular hypotonia [PDF]
, 2018 IMSP Institutul Mamei şi Copilului, Departamentul Pediatrie, USMF „ Nicolae Testemiţanu”Congenital muscular hypotonia is a state of low muscle tone, often involving reduced muscle strength.
Borisova, Ana +2 more
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Hypotonia of the newborn or infant
, 2022 Hypotonia of the newborn or infant is defined as decreased resistance to passive movement and is a frequent diagnostic challenge in pediatric practice.
Avila-Smirnow, Daniela +5 more
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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
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Transient Myopia and Hypotonia after Blunt Eye Trauma
, 2011 A patient whot received blunt trauma to the right eye one week ago referred to our clinic with complaints of low vision. Traumatic mMyopia and hypotonia were detected in the same eye after full ophthalmologic examination.
Yonca Ayd›n Akova +4 more
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Causes &clinical presentation of hypotonia in children [PDF]
, 2010 Background: Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle ...
Khawla M. kamel +2 more
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