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referencesuptodate· REFERENCES· item f17_8_17545

REFERENCES Nard JA. Abnormal head size and shape. In: Common & Chronic Symptoms in Pediatrics, Gartner JC, Zitelli BJ (Eds), Mosby, St. Louis 1997. Lorenz JM, Whitaker AH, Feldman JF, et al. Indices of body and brain size at birth and at the age of 2 years: relations to cognitive outcome at the age of 16 years in low birth weight infants. J Dev Behav Pediatr 2009; 30:535. Räikkönen K, Forsén T, Henriksson M, et al. Growth trajectories and intellectual abilities in young adulthood: The Helsinki Birth Cohort study. Am J Epidemiol 2009; 170:447. Gale CR, O'Callaghan FJ, Bredow M, et al. The influence of head growth in fetal life, infancy, and childhood on intelligence at the ages of 4 and 8 years. Pediatrics 2006; 118:1486. Heinonen K, Räikkönen K, Pesonen AK, et al. Prenatal and postnatal growth and cognitive abilities at 56 months of age: a longitudinal study of infants born at term. Pediatrics 2008; 121:e1325. Woods CG, Bond J, Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet 2005; 76:717. Kelley RI, Robinson D, Puffenberger EG, et al. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet 2002; 112:318. Rajab A, Manzini MC, Mochida GH, et al. A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. Am J Med Genet A 2007; 143A:2761. Spiegel R, Shaag A, Edvardson S, et al. SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. Ann Neurol 2009; 66:419. Baxter PS, Rigby AS, Rotsaert MH, Wright I. Acquired microcephaly: causes, patterns, motor and IQ effects, and associated growth changes. Pediatrics 2009; 124:590. Abuelo D. Microcephaly syndromes. Semin Pediatr Neurol 2007; 14:118. Opitz JM, Holt MC. Microcephaly: general considerations and aids to nosology. J Craniofac Genet Dev Biol 1990; 10:175. Vargas JE, Allred EN, Leviton A, Holmes LB. Congenital microcephaly: phenotypic features in a consecutive sample of newborn infants. J Pediatr 2001; 139:210. Ashwal S, Michelson D, Plawner L, et al. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2009; 73:887.

referencesuptodate· REFERENCES· item f17_8_17545

Vargas JE, Allred EN, Leviton A, Holmes LB. Congenital microcephaly: phenotypic features in a consecutive sample of newborn infants. J Pediatr 2001; 139:210. Ashwal S, Michelson D, Plawner L, et al. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2009; 73:887. Almgren M, Källén B, Lavebratt C. Population-based study of antiepileptic drug exposure in utero--influence on head circumference in newborns. Seizure 2009; 18:672. Hanley WB. Finding the fertile woman with phenylketonuria. Eur J Obstet Gynecol Reprod Biol 2008; 137:131. Rollins JD, Collins JS, Holden KR. United States head circumference growth reference charts: birth to 21 years. J Pediatr 2010; 156:907. Weaver DD, Christian JC. Familial variation of head size and adjustment for parental head circumference. J Pediatr 1980; 96:990. Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis 2010; 38:154. Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain 2009; 132:3199. Bilgüvar K, Oztürk AK, Louvi A, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010; 467:207. Mir A, Kaufman L, Noor A, et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet 2009; 85:909. Philippe O, Rio M, Carioux A, et al. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet 2009; 85:903. Mochida GH, Mahajnah M, Hill AD, et al. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet 2009; 85:897. Szabó N, Pap C, Kóbor J, et al. Primary microcephaly in Hungary: epidemiology and clinical features. Acta Paediatr 2010; 99:690. Shen J, Eyaid W, Mochida GH, et al. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet 2005; 42:725.

referencesuptodate· REFERENCES· item f17_8_17545

Mochida GH, Mahajnah M, Hill AD, et al. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet 2009; 85:897. Szabó N, Pap C, Kóbor J, et al. Primary microcephaly in Hungary: epidemiology and clinical features. Acta Paediatr 2010; 99:690. Shen J, Eyaid W, Mochida GH, et al. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet 2005; 42:725. Desir J, Cassart M, David P, et al. Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. Am J Med Genet A 2008; 146A:1439. Passemard S, Titomanlio L, Elmaleh M, et al. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology 2009; 73:962. Nicholas AK, Swanson EA, Cox JJ, et al. The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet 2009; 46:249. Kumar A, Girimaji SC, Duvvari MR, Blanton SH. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet 2009; 84:286. Guernsey DL, Jiang H, Hussin J, et al. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet 2010; 87:40. Shen J, Gilmore EC, Marshall CA, et al. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet 2010; 42:245. O'Driscoll M, Jackson AP, Jeggo PA. Microcephalin: a causal link between impaired damage response signalling and microcephaly. Cell Cycle 2006; 5:2339. Rossi LN, Candini G, Scarlatti G, et al. Autosomal dominant microcephaly without mental retardation. Am J Dis Child 1987; 141:655. Winter RM. Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face. Am J Med Genet 1993; 47:917. Haslam RH, Smith DW. Autosomal dominant microcephaly. J Pediatr 1979; 95:701. Ramírez ML, Rivas F, Cantú JM. Silent microcephaly: a distinct autosomal dominant trait. Clin Genet 1983; 23:281. Merlob P, Steier D, Reisner SH. Autosomal dominant isolated ('uncomplicated') microcephaly. J Med Genet 1988; 25:750. Hennekam RC, van Rhijn A, Hennekam FA. Dominantly inherited microcephaly, short stature and normal intelligence. Clin Genet 1992; 41:248.

referencesuptodate· REFERENCES· item f17_8_17545

Ramírez ML, Rivas F, Cantú JM. Silent microcephaly: a distinct autosomal dominant trait. Clin Genet 1983; 23:281. Merlob P, Steier D, Reisner SH. Autosomal dominant isolated ('uncomplicated') microcephaly. J Med Genet 1988; 25:750. Hennekam RC, van Rhijn A, Hennekam FA. Dominantly inherited microcephaly, short stature and normal intelligence. Clin Genet 1992; 41:248. Lenski C, Abidi F, Meindl A, et al. 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; 74:777. Najm J, Horn D, Wimplinger I, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 2008; 40:1065. Hackett A, Tarpey PS, Licata A, et al. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet 2010; 18:544. Bundey S, Carter CO. Recurrence risks in severe undiagnosed mental deficiency. J Ment Defic Res 1974; 18:115. Tolmie JL, McNay M, Stephenson JB, et al. Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. Am J Med Genet 1987; 27:583. Thornton GK, Woods CG. Primary microcephaly: do all roads lead to Rome? Trends Genet 2009; 25:501. Kaindl AM, Passemard S, Kumar P, et al. Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol 2010; 90:363. Wang JK, Li Y, Su B. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. Hum Mol Genet 2008; 17:1329. Vallender EJ, Mekel-Bobrov N, Lahn BT. Genetic basis of human brain evolution. Trends Neurosci 2008; 31:637. Rimol LM, Agartz I, Djurovic S, et al. Sex-dependent association of common variants of microcephaly genes with brain structure. Proc Natl Acad Sci U S A 2010; 107:384. Willems M, Geneviève D, Borck G, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet 2010; 47:797. Stegmann AP, Jonker LM, Engelen JJ. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements. Eur J Med Genet 2008; 51:93.

referencesuptodate· REFERENCES· item f17_8_17545

Willems M, Geneviève D, Borck G, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet 2010; 47:797. Stegmann AP, Jonker LM, Engelen JJ. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements. Eur J Med Genet 2008; 51:93. Lu XY, Phung MT, Shaw CA, et al. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 2008; 122:1310. Sagoo GS, Butterworth AS, Sanderson S, et al. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med 2009; 11:139. Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med 2010; 61:437. Dumas L, Sikela JM. DUF1220 domains, cognitive disease, and human brain evolution. Cold Spring Harb Symp Quant Biol 2009; 74:375. Firth HV, Richards SM, Bevan AP, et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 2009; 84:524. Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359:1685. Brunetti-Pierri N, Berg JS, Scaglia F, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008; 40:1466. van Bon BW, Koolen DA, Brueton L, et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet 2010; 18:163. Franco LM, de Ravel T, Graham BH, et al. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet 2010; 18:258. Kleefstra T, van Zelst-Stams WA, Nillesen WM, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet 2009; 46:598.

referencesuptodate· REFERENCES· item f17_8_17545

Franco LM, de Ravel T, Graham BH, et al. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet 2010; 18:258. Kleefstra T, van Zelst-Stams WA, Nillesen WM, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet 2009; 46:598. Nagamani SC, Erez A, Eng C, et al. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet 2009; 17:573. Shinawi M, Liu P, Kang SH, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010; 47:332. Wilson HL, Crolla JA, Walker D, et al. Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. Eur J Hum Genet 2008; 16:1301. Reardon W, Donnai D. Dysmorphology demystified. Arch Dis Child Fetal Neonatal Ed 2007; 92:F225. Williams SR, Mullegama SV, Rosenfeld JA, et al. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet 2010; 18:436. Jacob FD, Ramaswamy V, Andersen J, Bolduc FV. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Eur J Hum Genet 2009; 17:1577. Bahi-Buisson N, Nectoux J, Girard B, et al. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 2010; 11:241. Gilfillan GD, Selmer KK, Roxrud I, et al. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 2008; 82:1003. Zweier C, Peippo MM, Hoyer J, et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 2007; 80:994. Gitiaux C, Ceballos-Picot I, Marie S, et al. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet 2009; 17:133.

referencesuptodate· REFERENCES· item f17_8_17545

Zweier C, Peippo MM, Hoyer J, et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 2007; 80:994. Gitiaux C, Ceballos-Picot I, Marie S, et al. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet 2009; 17:133. Vignoli A, Canevini MP, Darra F, et al. Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. Epilepsia 2009; 50:2420. Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev 2009; 31:545. Tabatabaie L, Klomp LW, Berger R, de Koning TJ. L-serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol Genet Metab 2010; 99:256. Veggiotti P, Teutonico F, Alfei E, et al. Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype. Brain Dev 2010; 32:404. Barnerias C, Saudubray JM, Touati G, et al. Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 2010; 52:e1. Stacpoole PW, Gilbert LR, Neiberger RE, et al. Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate. Pediatrics 2008; 121:e1223. Wexler ID, Hemalatha SG, McConnell J, et al. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations. Neurology 1997; 49:1655. Barañano KW, Hartman AL. The ketogenic diet: uses in epilepsy and other neurologic illnesses. Curr Treat Options Neurol 2008; 10:410. Stephenson JB. Aicardi-Goutières syndrome (AGS). Eur J Paediatr Neurol 2008; 12:355. Briggs TA, Wolf NI, D'Arrigo S, et al. Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Am J Med Genet A 2008; 146A:3173. Hobson EE, Thomas S, Crofton PM, et al. Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy. Eur J Pediatr 2005; 164:655. Hoffmann C, Ben-Zeev B, Anikster Y, et al. Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. J Child Neurol 2007; 22:1214. van Straaten HL, van Tintelen JP, Trijbels JM, et al. Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption. Neuropediatrics 2005; 36:193.

referencesuptodate· REFERENCES· item f17_8_17545

Hoffmann C, Ben-Zeev B, Anikster Y, et al. Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. J Child Neurol 2007; 22:1214. van Straaten HL, van Tintelen JP, Trijbels JM, et al. Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption. Neuropediatrics 2005; 36:193. Samson JF, Barth PG, de Vries JI, et al. Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications. Eur J Pediatr 1994; 153:510. Longman C, Tolmie J, McWilliam R, MacLennan A. Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome. Clin Dysmorphol 2003; 12:133. Schram A, Kroes HY, Sollie K, et al. Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships. Am J Med Genet A 2004; 127A:172. Henneke M, Diekmann S, Ohlenbusch A, et al. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet 2009; 41:773. Bönnemann CG, Meinecke P. Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity. Am J Med Genet 1996; 63:428. Behunova J, Zavadilikova E, Bozoglu TM, et al. Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence. Clin Dysmorphol 2010; 19:107. Topic 14392 Version 4.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.6- C21.56 Licensed to: AsanBook Dig. Med. Lib. | Support Tag: [1005-83.177.194.223-B60670ABF6-S244013.14]