Results 21 to 30 of about 338,913 (237)
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review
Case Reports in Medicine, 2020 Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe ...
Sandra Sabbagh +2 more
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Clinical Reasoning: A neonate with micrognathia and hypotonia [PDF]
Neurology, 2016 A female infant was delivered via cesarean section at 39 weeks' gestation to a 40-year-old mother. Pregnancy was notable for normal fetal movement and amniotic fluid indices. Apgar scores were 7 and 8 at 1 and 5 minutes. Shortly after birth, the infant developed respiratory distress and apnea that resolved with repositioning of her neck and trunk ...
Marissa M, Vawter-Lee +3 more
openaire +2 more sources
Mitochondrial Encephalocardio-Myopathy with Neonatal Hypotonia and TMEM70 Mutation
Pediatric Neurology Briefs, 2010 The course and metabolic profile of a novel mitochondrial disease with ATPase deficiency and mutation in the TMEM70 gene are described in a retrospective multisite survey of 25 patients (14 boys, 11 girls) from 7 European countries.
J Gordon Millichap
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Pediatric Neurology Briefs, 1999 The natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees was investigated, with attention to the mode of onset in 23 children and the progression of weakness in 36 adult patients followed at the Academic ...
J Gordon Millichap
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Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient
Human Genome Variation, 2022 We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had
Yuya Fukuda +5 more
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Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence? [PDF]
Iranian Journal of Neonatology, 2022 Background: Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid.
Hanae Aouraghe +4 more
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Pyridoxine-Dependent Seizures and MRI Changes
Pediatric Neurology Briefs, 1998 Longitudinal brain MRI findings in two patients presenting with neonatal, pyridoxine-dependent seizures and followed for 5 to 9 years are reported from the University of California, Davis, CA.
J Gordon Millichap
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ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia
The Turkish Journal of Pediatrics, 2023 Background. A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1. Case.
Kübra Deveci +9 more
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Mitochondrial Myopathy and Hypotonia
Pediatric Neurology Briefs, 1992 Three children with hypotonia, cardiac impairment, and defects of the mitochondrial respiratory chain complexes, but no ragged red fibers, are reported from the Hopital de la Timone, Chemin de l’Armee, d’Afrique, Marseille, France.
J Gordon Millichap
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Joubert Syndrome: A Case Report
Nepal Journal of Neuroscience, 2018 Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Prakash Kafle +5 more
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