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184 Possible Causes for Neonatal Hypertonia

  • Coffin-Siris Syndrome

    […] and infantile hypertonia and upper airway obstruction.[ncbi.nlm.nih.gov] […] of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of reported CSS patients, we expand the phenotype to include neonatal[ncbi.nlm.nih.gov]

  • Disorder of Fructose Metabolism

    We describe a girl with neonatal hypertonia, facial trismus, absent swallowing and coughing reflexes, gastro-oesophageal reflux and sporadically elevated Krebs cycle metabolites[ncbi.nlm.nih.gov] High maternal fructose concentrations might have caused neonatal abnormalities.[ncbi.nlm.nih.gov] She is now 7 years old with good evolution; facial trismus and hypertonia reversed, but microcephaly persists.[ncbi.nlm.nih.gov]

  • Ohtahara Syndrome

    They had intractable seizures from neonatal period, dysmorphic features and hypertonia. Progressive microcephaly was also observed.[ncbi.nlm.nih.gov] Homozygous frameshift BRAT1 mutations were found in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498).[ncbi.nlm.nih.gov]

  • Hereditary Hyperekplexia

    We investigated the molecular basis of hyperekplexia (STHE), an inherited neurological disorder characterised by neonatal hypertonia and an exaggerated startle response, in[ncbi.nlm.nih.gov] Hyperekplexia was first described by Kirstein and Silfverskiold in 1958. [1] This is congenital disorder with major and minor forms. [2] Major if there are neonatal hypertonia[pediatricneurosciences.com] Disease relevance of GLRA1 Hereditary hyperekplexia, an autosomal dominant neurologic disorder characterized by an exaggerated startle reflex and neonatal hypertonia , can[wikigenes.org]

  • Maple Syrup Urine Disease

    The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia.[icd10data.com] […] seizures, and hypertonia; the intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting.[icd10data.com] […] divided into classic, intermediate, intermittent, and thiamine responsive subtypes; classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal[icd10data.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Hyperekplexia is characterized by neonatal hypertonia and an exaggerated ...[kegg.jp]

  • Hereditary Hypotrichosis with Recurrent Skin Vesicles

    Hyperekplexia is characterized by neonatal hypertonia and an exaggerated ...[kegg.jp]

  • Congenital Cataract-Ichthyosis Syndrome

    Hyperekplexia is characterized by neonatal hypertonia and an exaggerated ...[kegg.jp]

  • Fetal Hypoxia

    Despite the enormous impact of CP, there is no animal model that reproduces the hypertonia and motor disturbances of this disorder.[ncbi.nlm.nih.gov] […] brain has been strongly implicated in the subsequent development of the hypertonic motor deficits of cerebral palsy (CP) in premature and full-term infants who present with neonatal[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 32

    […] progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Moreno-De-Luca et al., 2011). (613744)[malacards.org] Related phenotypes are nystagmus and seizures OMIM : 57 Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that[malacards.org]

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