Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2022.0067
Abstract: Importance Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require invasive testing and multiple procedures. The wide range of clinical presentations and potential etiologies leaves diagnosis… read more here.
Keywords: multicenter consensus; neonatal hypotonia; review; consensus approach ... See more keywords
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1849
Abstract: We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia. read more here.
Keywords: cracking saga; consanguineous kindred; congenital hypotonia; hypotonia ... See more keywords
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.08.004
Abstract: Deleterious homozygous or compound heterozygous mutations in the TBCK (TBC1-domain-containing kinase) gene (implicated in the MTOR pathway) produce profound hypotonia, global developmental delay, facial dysmorphic features, and brain abnormalities. The disorder has been named "infantile… read more here.
Keywords: hypotonia; hypotonia psychomotor; infantile hypotonia; characteristic facies ... See more keywords
2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2018.03.031
Abstract: Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental delay, intellectual disability, hypotonia, and mild dysmorphic features. Hearing impairment and anal atresia are rarely described.… read more here.
Keywords: hypotonia; month old; anal atresia; hearing impairment ... See more keywords
A 7‐month‐old boy with global developmental delay, hypotonia, and abnormal hair
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.15008
Abstract: A 7-month-old boy infant presented with global developmental delay and hypotonia of the trunk and limbs since birth. No history of seizures, feeding difficulty, or recurrent aspiration of feeds was present. He was the firstborn… read more here.
Keywords: month old; developmental delay; old boy; hypotonia ... See more keywords
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Sign Up to like & getrecommendations! Published in 2018 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0825-3
Abstract: BackgroundATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations.MethodsAn observational study was… read more here.
Keywords: hypotonia; optic atrophy; severe hypotonia; atrophy ... See more keywords
A 43-Day-Old Male With Respiratory Distress and Acute-Onset Hypotonia.
Sign Up to like & getrecommendations! Published in 2022 at "Pediatrics"
DOI: 10.1542/peds.2022-056744
Abstract: A 43-day-old, full-term, previously healthy male presented with decreased activity and oral intake. He was found to be grunting and hypoxemic on examination, and a respiratory pathogen panel was positive for rhinovirus. He was diagnosed… read more here.
Keywords: day; hypotonia; old male; respiratory ... See more keywords
Case 3: Hypotonia in the Infant: When the Source Is Unknown
Sign Up to like & getrecommendations! Published in 2020 at "Pediatrics in Review"
DOI: 10.1542/pir.2017-0241
Abstract: 1. Endya L. Frye, MD*,† 2. Angela Hartsell, MD, MPH*,† 3. Suresh Nagappan, MD, MSPH*,† 1. *Department of Pediatrics, University of North Carolina Hospital, Chapel Hill, NC 2. †Pediatric Teaching Program, Moses Cone Hospital, Greensboro,… read more here.
Keywords: infant source; hypotonia; hypotonia infant; source unknown ... See more keywords
Frequency and Causes of Hypotonia in Neonatal Period with the Gestational Age of More Than 36 Weeks in NICU of Mofid Children Hospital, Tehran, Iran During 2012-2014
Sign Up to like & getrecommendations! Published in 2017 at "Iranian Journal of Child Neurology"
DOI: 10.22037/ijcn.v11i1.10989
Abstract: Objective Hypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to… read more here.
Keywords: hypotonia; nicu mofid; children hospital; mofid children ... See more keywords