Ocular manifestations of Donnai-Barrow syndrome.


:Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detachment. The extreme congenital myopia in these patients is a significant risk factor for retinal detachment, and prophylactic barrier photocoagulation may be considered to prevent retinal detachment and its associated functional disability.


J Child Neurol


Patel N,Hejkal T,Katz A,Margalit E




Has Abstract


2007-04-01 00:00:00














  • Current therapy for West syndrome in Japan.

    abstract::We sent questionnaires concerning the current therapy for West syndrome to 208 institutions at which pediatric care members of the Japan Epilepsy Society were working. Of these, 129 (62%) institutions responded. Vitamin B6 was the preferred first-line drug, followed by the combination of vitamin B6 and valproate or mo...

    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Ito M,Seki T,Takuma Y

    更新日期:2000-06-01 00:00:00

  • Neuropsychological findings in childhood narcolepsy.

    abstract::Narcolepsy with cataplexy is a severely disabling disorder very often arising in childhood. Data on neuropsychological impairment in children are scant. We administered standardized neuropsychological tests to 13 children with narcolepsy with cataplexy. Overall, our patients displayed multiple patterns of cognitive an...

    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Posar A,Pizza F,Parmeggiani A,Plazzi G

    更新日期:2014-10-01 00:00:00

  • Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome.

    abstract::Childhood disintegrative disorder, a rare, relentlessly progressive neurologic disorder, first described by Heller in 1908, remains a condition of great interest. It has long been debated whether it is a discrete disorder or simply a late-onset variant of childhood autism. We have studied 6 cases of childhood disinteg...

    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Rosman NP,Bergia BM

    更新日期:2013-12-01 00:00:00

  • Infantile Sandhoff's disease: multivoxel magnetic resonance spectrosecopy findings.

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


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    更新日期:2003-06-01 00:00:00

  • Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.

    abstract::Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the same coin. Both arise from mutations in the gene encoding myelin proteolipid protein. The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审


    authors: Hudson LD

    更新日期:2003-09-01 00:00:00

  • Childhood-onset CADASIL: clinical, imaging, and neurocognitive features.

    abstract::CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a progressive neurodegenerative condition, associated with mutations in the notch3 gene. Symptoms include migraine with aura, mood disorders, progressive cognitive decline, subcortical ischemic strokes, dementia, an...

    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Hartley J,Westmacott R,Decker J,Shroff M,Yoon G

    更新日期:2010-05-01 00:00:00

  • Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III.

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


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    更新日期:2011-12-01 00:00:00

  • Pharmacoeconomic considerations in treatment options for acute seizures.

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Graves N

    更新日期:1998-10-01 00:00:00

  • Neurobehavioral and neurologic outcome in long-term survivors of posterior fossa brain tumors: role of age and perioperative factors.

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    pub_type: 杂志文章


    authors: Chapman CA,Waber DP,Bernstein JH,Pomeroy SL,LaVally B,Sallan SE,Tarbell N

    更新日期:1995-05-01 00:00:00

  • Steroid-responsive chronic cerebellitis with positive glutamate receptor delta 2 antibody.

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Kubota M,Takahashi Y

    更新日期:2008-02-01 00:00:00

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Kara C,Aydin OF,Aslan B,Gürer YK

    更新日期:2007-02-01 00:00:00

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    pub_type: 杂志文章,评审


    authors: Nejat F,El Khashab M,Rutka JT

    更新日期:2008-10-01 00:00:00

  • Pediatric acute transverse myelitis overview and differential diagnosis.

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    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审


    authors: Wolf VL,Lupo PJ,Lotze TE

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  • Speed-accuracy testing on the Apple iPad provides a quantitative test of upper extremity motor performance in children with dystonia.

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Bertucco M,Sanger TD

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    pub_type: 杂志文章


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    authors: Gücüyener K,Ergenekon E,Demiryürek T,Erbaş D,Oztürk G,Koç E,Atalay Y

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  • Infant-onset progressive myoclonus epilepsy.

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    authors: Harbord MG,Hwang PA,Robinson BH,Becker LE,Hunjan A,Murphy EG

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  • Ornithine transcarbamylase deficiency presenting with acute reversible cortical blindness.

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    journal_title:Journal of child neurology

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    authors: Prasun P,Altinok D,Misra VK

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  • Pediatric anti-N-methyl-D-aspartate (NMDA) receptor encephalitis: experience of a tertiary care teaching center from north India.

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    journal_title:Journal of child neurology

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    authors: Chakrabarty B,Tripathi M,Gulati S,Yoganathan S,Pandit AK,Sinha A,Rathi BS

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  • Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2.

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    authors: Sproule DM,Hasnain R,Koenigsberger D,Montgomery M,De Vivo DC,Kaufmann P

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  • Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.

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    pub_type: 杂志文章


    authors: Goutières F,Boulloche J,Bourgeois M,Aicardi J

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  • Ante- and perinatal factors for cerebral palsy: case-control study in Estonia.

    abstract::Establishing consistency between cerebral palsy registries in reporting of new cases enables more effective collaboration in terms of researching predisposing factors. To identify antenatal and intrapartum risk factors for cerebral palsy in the Estonian population, we undertook a matched case-control study of 153 chil...

    journal_title:Journal of child neurology

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    authors: Stelmach T,Pisarev H,Talvik T

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  • Long-term prognosis of pediatric patients with relapsing acute disseminated encephalomyelitis.

    abstract::Although long-term follow-up data are available for cases with acute disseminated encephalomyelitis, the findings range widely because of the lack of consistent definitions. Using the International Pediatric Multiple Sclerosis Study Group definitions strictly, we determined the long-term prognosis of children with acu...

    journal_title:Journal of child neurology

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    authors: Mar S,Lenox J,Benzinger T,Brown S,Noetzel M

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  • Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Zhang LM,An Y,Pan G,Ding YF,Zhou YF,Yao YH,Wu BL,Zhou SZ

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Samaha FJ,Quinlan JG

    更新日期:1996-01-01 00:00:00

  • Neuroplastic Sensorimotor Resting State Network Reorganization in Children With Hemiplegic Cerebral Palsy Treated With Constraint-Induced Movement Therapy.

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    journal_title:Journal of child neurology

    pub_type: 杂志文章,多中心研究


    authors: Manning KY,Menon RS,Gorter JW,Mesterman R,Campbell C,Switzer L,Fehlings D

    更新日期:2016-02-01 00:00:00

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    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审


    authors: Peacock WJ,Staudt LA

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  • Pontine Tegmentum Lesions Accompanying Myelitis During an Enterovirus Outbreak: Differential Diagnosis and Outcome.

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Bastemur M,Gocmen R,Parlak S,Yuksel D,Arslan EA,Okten AY,Iscan A,Ekici B,Anlar B

    更新日期:2020-07-01 00:00:00

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Geier DA,Hooker BS,Kern JK,Sykes LK,Geier MR

    更新日期:2014-08-27 00:00:00

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    journal_title:Journal of child neurology

    pub_type: 杂志文章


    authors: Ullrich NJ,Riviello JJ Jr,Darras BT,Donner EJ

    更新日期:2004-07-01 00:00:00