microcephaly/hypoxie

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Alcohol-mediated Purkinje cell loss in the absence of hypoxemia during the third trimester in an ovine model system.

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BACKGROUND Although the mechanisms that underlie fetal alcohol-induced neuronal loss have not been determined, hypoxia/hypoxemia has been considered a leading candidate. This study was designed to test the hypothesis that neuronal loss could occur in the developing brain in the absence of fetal

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

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Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations. More than 16 genes are described in autosomal recessive primary

Sleep EEG of Microcephaly in Zika Outbreak.

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Microcephaly (MC), previously considered rare, is now a health emergency of international concern because of the devastating Zika virus pandemic outbreak of 2015. The authors describe the electroencephalogram (EEG) findings in sleep EEG of epileptic children who were born with microcephaly in areas

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.

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Several missense mutations in the orphan transporter FLVCR2 have been reported in Fowler syndrome. Affected subjects exhibit signs of severe neurological defects. We identified the mouse ortholog Mfsd7c as a gene, which is expressed in the blood brain barrier. Here, we report the characterizations

[Changes in cranial size and configuration in infants].

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Abnormalities of cranial size and configuration include macrocephaly, microcephaly and dysmorphic skull. Hydrocephalus, mega-encephalus, abnormal growth of skull bones and chronic subdural and epidural collections are among the most important causes of macrocephaly. Primary microcephaly may be due

Rubinstein-taybi syndrome with psychosis.

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Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder with characteristic physical anomalies. It is characterized by mental retardation, postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs, and big toes. Behavioral problems are common with RTS; they include

Recurrence risks in families of children with symmetrical spasticity.

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This study was undertaken to evaluate the recurrence risks for sibs of patients with symmetrical spasticity (either quadriplegia or diplegia) in the absence of factors known to cause spastic cerebral palsy (e.g. pre-term birth, perinatal hypoxia). Among 669 children in the West Midlands with spastic

Central nervous system in twin reversed arterial perfusion sequence with special reference to examination of the brain in acardius anceps.

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The twin-reversed arterial perfusion (TRAP) sequence, or acardia, is the most severe complication in monozygotic twinning. Although more than 400 cases with TRAP sequence were reported since 1533, thorough investigations of the brain in those cases with a rudimentary head remained infrequent. We

[Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay].

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OBJECTIVE To detect subtelomeric rearrangement in patients with idiopathic mental retardation/developmental delays (MR/DD) and to provide new methods and evidence for the etiologic diagnosis of MR/DD in China. METHODS 1. METHODS (1) Moderate to severe MR/DD; (2) no definite perinatal brain injury;

Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients.

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BACKGROUND Wolf-Hirschhorn syndrome (WHS) results from the partial deletion of 4p. This study aimed to identify and fine map the chromosome deletion regions of Chinese children with Wolf-Hirschhorn syndrome among the developmental delay/mental retardation (DD/MR) patients. METHODS We analyzed the

Nocturnal sleep in mentally retarded infants with cerebral palsy.

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Sleep EEG patterns in 23 mentally retarded children with cerebral palsy (CP) (from 4 months to 5 years of age) and 39 reference mentally retarded children of no abnormality with the exception of psychomotor retardation (from 4 months to 12 years of age) were studied throughout nocturnal sleep, and

Early and longitudinal evaluations of treated infants and children and untreated historical patients with congenital toxoplasmosis: the Chicago Collaborative Treatment Trial.

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Between December 1981 and May 1991, 44 infants and children with congenital toxoplasmosis were referred to our study group. A uniform approach to evaluation and therapy was developed and is described herein along with the clinical characteristics of these infants and children. In addition, case

Genetic analysis of a group of mentally retarded children.

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Genetic analysis of 169 mentally retarded (MR) children from Madras, revealed chromosomal abnormalities in 17%. Down syndrome was the major chromosomal anomaly (24/169 = 14.2%). These included three cases of trisomy-21 mosaics, and one case of de novo Robertsonian translocation. MR children with

Cerebral palsy--an etiological study.

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Five hundred and forty four cases of cerebral palsy were studied to find the etiology. Male to female ratio was 1.9:1. Prenatal, natal and postnatal factors were found in 42 (7.72%), 238 (43.75%) and 142 (26.1%) cases respectively. Only 79 (14.52%) cases were found to have more than one factor which

Risk factors of infantile spasms compared with other seizures in children under 2 years of age.

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To analyze the magnitude of the risk factors for infantile spasms, we evaluated the records of 80 children with infantile spasms, 474 children with other types of epilepsy, 2,196 children with febrile seizures, and 262 children with CNS infections. There was a family history of seizures in 13.8% of

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