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266 Possible Causes for Occipital Encephalocele, Truncal Ataxia

  • Dandy-Walker Syndrome

    It is rare for Dandy-Walker syndrome to occur together with occipital encephalocele.[ncbi.nlm.nih.gov] The common presenting symptom and associated central nervous system anomaly were enlargement of head and occipital encephalocele, respectively.[ncbi.nlm.nih.gov] Seven had occipital encephalocele and in 1 of these there was an associated Klippel-Feil syndrome.[ncbi.nlm.nih.gov]

  • Meckel Syndrome Type 7

    ., oculomotor apraxia), and progressive truncal ataxia.[invitae.com] Keywords: Meckel-Gruber syndrome, occipital encephalocele, polycystic kidney, polydactyly How to cite this article: Panduranga C, Kangle R, Badami R, Patil PV.[ruralneuropractice.com] Typical clinical signs are an occipital encephalocele, microphthalmia, bilateral dysplastic cystic kidneys and other malformations of the CNS.[neocyst.de]

  • Meckel-Gruber Syndrome

    ., oculomotor apraxia), and progressive truncal ataxia.[invitae.com] A one-day-old girl was admitted to our clinic with occipital encephalocele, polydactyly, ulnar deviation of left hand and failure to thrive.[ncbi.nlm.nih.gov] It typically involves occipital encephalocele, polycystic kidneys, and postaxial polydactyly. Various additional abnormalities may occur simultaneously.[symptoma.com]

  • Basal Encephalocele

    In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed.[ncbi.nlm.nih.gov] Sagittal ultrasonogram through the fetal skull shows a small occipital encephalocele.[emedicine.medscape.com] A baby with a large occipital encephalocele.[medical-dictionary.thefreedictionary.com]

  • Occipital Encephalocele

    At a mean age of 6.7 years (4 months to 15.8 years), truncal hypotonia was present in all patients.[thieme-connect.com] Two children with giant occipital encephaloceles with herniation of significant brain parenchyma into the encephalocele sac were managed with expansile cranioplasty and reconstruction[ncbi.nlm.nih.gov] Occipital encephaloceles are the most frequent type in North America and Western Europe, where about 85% of encephaloceles take this form.[ncbi.nlm.nih.gov]

  • Cranial Meningocele

    Other problems those with this syndrome may have include vomiting, headaches, delayed acquisition of motor skills, breathing problems, truncal ataxia (a lack of coordination[what-when-how.com] Sagittal ultrasonogram through the fetal skull shows a small occipital encephalocele.[emedicine.medscape.com] Encephalocele Findings: A predominantly cystic mass is seen protruding from the occipital region.[fetalsono.com]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    […] or complete absence of cerebellar vermis cystic dilation of the fourth ventricle (dilated fourth ventricle) hydrocephalus bulging occiput cranial nerve palsies nystagmus truncal[humpath.com] There was history of excision of occipital encephalocele and insertion of a ventriculo-peritoneal shunt at birth.[indianpediatrics.net] KNOBLOCH SYNDROME 1; KNO1 Is also known as kno, retinal detachment and occipital encephalocele;knobloch-layer syndrome; retinal detachment-occipital encephalocele syndrome[mendelian.co]

  • Dysequilibrium Syndrome

    Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent[ncbi.nlm.nih.gov] Variable features include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities[ncbi.nlm.nih.gov] ataxia was used to identify the mutation.[ncbi.nlm.nih.gov]

  • Weissenbacher-Zweymuller Syndrome

    ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Intellectual[se-atlas.de] In addition, twin B had a parieto occipital encephalocele while twin A had a meningocele at the same location.[ncbi.nlm.nih.gov] […] dysmorphism-hand anomalies syndrome Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal[se-atlas.de]

  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    […] the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability.[malacards.org] Barisic et al (2015) stated that Meckel-Gruber syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele[aetna.com] TGM6 gene Spinocerebellar ataxia (SCA36) OMIM #614153 Truncal instability Dysarthria Dysdiadochokinesis Hyperreflexia Impaired smooth pursuit and horizontal gaze nystagmus[emedicine.medscape.com]

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