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The Genetics of Primary Microcephaly
Annual Review of Genomics and Human Genetics, 2018Primary microcephaly (MCPH, for "microcephaly primary hereditary") is a disorder of brain development that results in a head circumference more than 3 standard deviations below the mean for age and gender. It has a wide variety of causes, including toxic
Byoung-Il Bae, Christopher A Walsh
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Journal of Mental Science, 1959
Smallness of the cranium is one of the commonest findings in severe mental defect. Ashby and Stuart (1933 and 1934) found a correlation between brain weight and mental age of +0.15, but they regarded this as part of the more general positive correlation of +0.24 which they observed between body weight and mental age.
M W, BRANDON, B H, KIRMAN, C E, WILLIAMS
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Smallness of the cranium is one of the commonest findings in severe mental defect. Ashby and Stuart (1933 and 1934) found a correlation between brain weight and mental age of +0.15, but they regarded this as part of the more general positive correlation of +0.24 which they observed between body weight and mental age.
M W, BRANDON, B H, KIRMAN, C E, WILLIAMS
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2013
True microcephaly (head circumference ≤-3SD), either primary (present at birth) or secondary (of postnatal onset) results from an imbalance between progenitor cell production and cell death that lead to a reduced number of neuronal and glial cells within the brain, resulting in reduced brain growth.
Sandrine, Passemard +2 more
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True microcephaly (head circumference ≤-3SD), either primary (present at birth) or secondary (of postnatal onset) results from an imbalance between progenitor cell production and cell death that lead to a reduced number of neuronal and glial cells within the brain, resulting in reduced brain growth.
Sandrine, Passemard +2 more
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Developmental Medicine & Child Neurology, 1977
SUMMARYA two‐month‐old child born with marked microcephaly (head circumference 17cm) was found at autopsy to have gliomesodermal tissue replacing the telencephalon (atelencephaly). This finding, together with genital anomalies and hypoplasia of the extremities, suggests arrest at the fifth week of fetal life.
C A, Garcia, C, Duncan
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SUMMARYA two‐month‐old child born with marked microcephaly (head circumference 17cm) was found at autopsy to have gliomesodermal tissue replacing the telencephalon (atelencephaly). This finding, together with genital anomalies and hypoplasia of the extremities, suggests arrest at the fifth week of fetal life.
C A, Garcia, C, Duncan
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Pediatrics In Review, 1996
Microcephaly is characterized by a head circumference that is below the normal range. The diagnosis is made by measuring the largest circumference of the head, using the glabella and the occipital protuberance as reference points. Head circumference reflects brain volume, with a small skull usually reflecting a small brain.
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Microcephaly is characterized by a head circumference that is below the normal range. The diagnosis is made by measuring the largest circumference of the head, using the glabella and the occipital protuberance as reference points. Head circumference reflects brain volume, with a small skull usually reflecting a small brain.
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Seminars in Pediatric Neurology, 2007
The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies.
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The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies.
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Current Opinion in Neurobiology, 2004
Microcephaly is defined as a reduction in head circumference and this clinical finding infers that an individual has a significant diminution in brain volume. Microcephaly can be usefully divided into primary microcephaly, in which the brain fails to grow to the correct size during pregnancy, and secondary microcephaly, in which the brain is the ...
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Microcephaly is defined as a reduction in head circumference and this clinical finding infers that an individual has a significant diminution in brain volume. Microcephaly can be usefully divided into primary microcephaly, in which the brain fails to grow to the correct size during pregnancy, and secondary microcephaly, in which the brain is the ...
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Human Molecular Genetics, 2020
The molecular cause of the majority of rare autosomal recessive disorders remains unknown. Consanguinity due to extensive homozygosity unravels many recessive phenotypes and facilitates the detection of novel gene-disease links.
M. Ansar +13 more
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The molecular cause of the majority of rare autosomal recessive disorders remains unknown. Consanguinity due to extensive homozygosity unravels many recessive phenotypes and facilitates the detection of novel gene-disease links.
M. Ansar +13 more
semanticscholar +1 more source
Pediatric Care Online, 2021
Key Points Microcephaly is a physical finding, not a diagnosis.Can be either congenital (present at birth) or acquired (develops postnatally).Careful measurements with proper technique plotted on the appropriate growth chart (World Health Organization, Centers for Disease Control and Prevention, or special population) are essential ...
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Key Points Microcephaly is a physical finding, not a diagnosis.Can be either congenital (present at birth) or acquired (develops postnatally).Careful measurements with proper technique plotted on the appropriate growth chart (World Health Organization, Centers for Disease Control and Prevention, or special population) are essential ...
openaire +1 more source