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Seminars in Pediatric Neurology
Volume 14, Issue 3
, Pages 118-127
, September 2007
Microcephaly Syndromes
References
- . Microcephaly: General considerations and aids to nosology. J Craniofac Genet Dev Biol. 1990;10:175–204
- . The Malformed Infant and Child. In: Oxford: Oxford University Press; 1983;p. 72
- . The predictive value of microcephaly during the first year of life for mental retardation at seven years. Dev Med Child Neurol. 1991;33:974–983
- . Familial variation of head size and adjustment for parental head circumference. J Pediatr. 1980;96:990–994
- . Head circumference from birth to eighteen years, practical composite of international and interracial graphs. Pediatrics. 1968;41:106–114
- . Human microcephaly. Curr Opin Neurobiol. 2004;14:112–117
- . Congenital microcephaly due to vascular disruption: in utero documentation. Pediatrics. 1986;78:85–87
- Report and review of the fetal brain disruption sequence. Eur J Pediatr. 2001;160:664–667
- . Fetal brain disruption sequence. J Pediatr. 1990;116:383–386
- . Microcephaly and intracranial calcification in two brothers. J Med Genet. 1983;20:210–212
- Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships. Am J Med Genet. 2004;127A:172–182
- . Abnormally small head size and intellect in children. J Pediatr. 1968;73:593–598
- Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children. J Develop Behav Pediatr. 2000;21:12–18
- Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002;71:136–142
- Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet. 2003;73:1170–1177
- . Autosomal recessive primary microcephaly (MCPH): A review of clinical, molecular and evolutionary findings. Am J Hum Genet. 2005;76:717–728
- . A small step for the cell, a giant leap for mankind: A hypothesis of neocortical expansion during evolution. Trends Neurosci. 1995;18:383–388
- . Primary microcephaly: New approaches for an old disorder. Am J Med Genet. 2002;112:315–317
- Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet. 2002;112:318–326
- . Autosomal dominant microcephaly. J Pediatr. 1979;95:701–705
- . Dominantly inherited microcephaly, short stature and normal intelligence. Clin Genet. 1992;41:248–251
- Familial sex-linked mental retardation. Can Med Assoc J. 1962;87:954–956
- . X-linked mental retardation: Renpenning revisited. Am J Med Genet. 1980;7:491–495
- Renpenning syndrome maps to Xp11. Am J Hum Genet. 1998;62:1092–1101
- Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet. 2004;74:77–780
- . Human Malformations and Related Anomalies. (ed 2). Oxford: Oxford University Press; 2006;
- . London Dysmorphology Database (CD-ROM). Oxford: Oxford Medical Databases, Oxford University Press; 2001;
- . Smith’s Recognizable Patterns of Human Malformation. Philadelphia, PA: Elsevier; 2006;
- Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr. 1995;127:82–87
- Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am J Med Genet. 1995;56:281–285
- . American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics. 2001;107:1192–1204
- . De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes. J Med Genet. 1997;34:645–650
- Lissencephaly (A human brain malformation associated with deleletion of the LIS1 gene located at chromosome 17p13). JAMA. 1993;270:28338-2842
- . Lissencephaly and the molecular basis of neuronal migration. Hum Molec Genet. 2003;12:R89–R96
- . Microcephaly, lymphedema and chorioretinal dysplasia: A distinct syndrome. Am J Med Genet. 1992;43:1030–1031
- Microcephaly-lymphedema, chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance. Am J Med Genet. 1999;86:215–218
- Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia and developmental delay. Am J Med Genet. 1997;69:245–249
- MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet. 2005;37:465–467
- . Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome. Am J Med Genet. 1999;89:111–115
- Schaefer GB, Kleimola CH, Stenson C, et al: Wolf-Hirschhorn Syndrome (4p-): A Handbook for Families. Available at: mrimedia@unmc.edu. Accessed August 27, 2008
- . Fetal alcohol syndrome and alcohol-related neurodevelopmental disorders. Pediatrics. 2000;106:358–361
- . Teratogenic effects of alcohol (A decade of brain imaging). Am J Med Genet. 2004;127C:35–41
- Holoprosencephaly in infants of diabetic mothers. J Pediatr. 1983;102:565–568
- . Microcephaly in familial holoprosencephaly. J Craniofac Genet Dev Biol. 1988;8:53–61
- . Clinical, cytogenetic and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am J Med Genet. 1989;34:237–245
- . Mutations in holoprosencephaly. Hum Mutat. 2000;16:99–108
- Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly. N Engl J Med. 2003;348:15:1449–1454
PII: S1071-9091(07)00049-6
doi: 10.1016/j.spen.2007.07.003
© 2007 Elsevier Inc. All rights reserved.
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Seminars in Pediatric Neurology
Volume 14, Issue 3
, Pages 118-127
, September 2007
