메뉴 건너뛰기




Volumn 24, Issue 2, 2004, Pages 507-522

The infant skull: A vault of information

Author keywords

Infants, skeletal system, 10.10, 11.10; Skull, abnormalities, 10.10, 10.143, 10.144; Skull, diseases, 10.15, 10.1521, 10.1552, 10.1553, 10.16, 10.172, 10.593, 10.873; Skull, injuries, 10.40; Skull, radiography, 10.10, 11.10

Indexed keywords

BONE DYSPLASIA; CLINICAL FEATURE; CLINICAL TRIAL; COMPUTER ASSISTED TOMOGRAPHY; CYTOMEGALOVIRUS INFECTION; DENSITY; FETAL ALCOHOL SYNDROME; HERPES SIMPLEX; HUMAN; HYDROCEPHALUS; HYPOPHOSPHATASIA; MACROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOGENESIS IMPERFECTA; OSTEOPOROSIS; REVIEW; RUBELLA; SKULL RADIOGRAPHY; TOXOPLASMOSIS;

EID: 1842731079     PISSN: 02715333     EISSN: None     Source Type: Journal    
DOI: 10.1148/rg.242035105     Document Type: Review
Times cited : (78)

References (47)
  • 1
    • 0001870116 scopus 로고
    • Embryology and development
    • Bannister LH, Berry MM, Collins P, Dyson M, Dussek JE, Ferguson MW, eds. New York, NY: Churchill Livingstone
    • Williams PL. Embryology and development. In: Bannister LH, Berry MM, Collins P, Dyson M, Dussek JE, Ferguson MW, eds. Gray's anatomy: the anatomical basis of medicine and surgery. 38th ed. New York, NY: Churchill Livingstone, 1995; 271-275.
    • (1995) Gray's Anatomy: The Anatomical Basis of Medicine and Surgery. 38th Ed. , pp. 271-275
    • Williams, P.L.1
  • 2
    • 0036922476 scopus 로고    scopus 로고
    • New insights into craniosynostosis
    • Flores-Sarnat L. New insights into craniosynostosis. Semin Pediatr Neurol 2002; 9:274-291.
    • (2002) Semin Pediatr Neurol , vol.9 , pp. 274-291
    • Flores-Sarnat, L.1
  • 4
    • 0029917537 scopus 로고    scopus 로고
    • A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations
    • Superti-Furga A, Rossi A, Steinmann B, Gitzelman R. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. Am J Med Genet 1996; 63:144-147.
    • (1996) Am J Med Genet , vol.63 , pp. 144-147
    • Superti-Furga, A.1    Rossi, A.2    Steinmann, B.3    Gitzelman, R.4
  • 5
    • 0034108294 scopus 로고    scopus 로고
    • Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
    • Mortier GR, Weis M, Nuytinck L, et al. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet 2000; 37:263-271.
    • (2000) J Med Genet , vol.37 , pp. 263-271
    • Mortier, G.R.1    Weis, M.2    Nuytinck, L.3
  • 6
    • 0032769447 scopus 로고    scopus 로고
    • Molecular genetics and pathophysiology of Menkes disease
    • Kodama H, Murata Y. Molecular genetics and pathophysiology of Menkes disease. Pediatr Int 1999; 41:430-435.
    • (1999) Pediatr Int , vol.41 , pp. 430-435
    • Kodama, H.1    Murata, Y.2
  • 7
    • 0036829431 scopus 로고    scopus 로고
    • Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia
    • Watanabe H, Goseki-Sone M, Orimo H, et al. Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia. J Bone Miner Res 2002; 17:1945-1948.
    • (2002) J Bone Miner Res , vol.17 , pp. 1945-1948
    • Watanabe, H.1    Goseki-Sone, M.2    Orimo, H.3
  • 9
    • 0037106533 scopus 로고    scopus 로고
    • Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta
    • Millington-Ward S, Allers C, Tuohy G, et al. Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta. Hum Mol Genet 2002; 11:2201-2206.
    • (2002) Hum Mol Genet , vol.11 , pp. 2201-2206
    • Millington-Ward, S.1    Allers, C.2    Tuohy, G.3
  • 10
    • 0035014899 scopus 로고    scopus 로고
    • Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta
    • Trummer T, Brenner R, Just W, Vogel W, Kennerknecht I. Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta. Clin Genet 2001; 59:338-343.
    • (2001) Clin Genet , vol.59 , pp. 338-343
    • Trummer, T.1    Brenner, R.2    Just, W.3    Vogel, W.4    Kennerknecht, I.5
  • 11
    • 0028337485 scopus 로고
    • Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone
    • Cohen-Solal L, Zylberberg L, Sangalli A, Gomez Lira M, Mottes M. Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone. J Biol Chem 1994; 269:14751-14758.
    • (1994) J Biol Chem , vol.269 , pp. 14751-14758
    • Cohen-Solal, L.1    Zylberberg, L.2    Sangalli, A.3    Gomez Lira, M.4    Mottes, M.5
  • 12
    • 0019358248 scopus 로고
    • Osteogenesis imperfecta: An expanding panorama of variants
    • Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop 1981; 159:11-25.
    • (1981) Clin Orthop , vol.159 , pp. 11-25
    • Sillence, D.1
  • 13
  • 14
    • 0018841073 scopus 로고
    • Computed tomographic signs of the Chiari II malformation. Part I: Skull and dural partitions
    • Naidich TP, Pudlowski RM, Naidich JB, Gornish M, Rodriguez FJ. Computed tomographic signs of the Chiari II malformation. Part I: skull and dural partitions. Radiology 1980; 134:65-71.
    • (1980) Radiology , vol.134 , pp. 65-71
    • Naidich, T.P.1    Pudlowski, R.M.2    Naidich, J.B.3    Gornish, M.4    Rodriguez, F.J.5
  • 15
    • 0023022394 scopus 로고
    • Dominantly inherited craniodiaphyseal dysplasia: A new craniotubular dysplasia
    • Schaefer B, Stein S, Oshman D, et al. Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia. Clin Genet 1986; 30:381-391.
    • (1986) Clin Genet , vol.30 , pp. 381-391
    • Schaefer, B.1    Stein, S.2    Oshman, D.3
  • 16
    • 0034894052 scopus 로고    scopus 로고
    • Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3
    • Benichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W. Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3. Am J Hum Genet 2001; 69:647-654.
    • (2001) Am J Hum Genet , vol.69 , pp. 647-654
    • Benichou, O.1    Cleiren, E.2    Gram, J.3    Bollerslev, J.4    De Vernejoul, M.C.5    Van Hul, W.6
  • 17
    • 0035880417 scopus 로고    scopus 로고
    • The mutational spectrum of human malignant autosomal recessive osteopetrosis
    • Sobacchi C, Frattini A, Orchard P, et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001; 10:1767-1773.
    • (2001) Hum Mol Genet , vol.10 , pp. 1767-1773
    • Sobacchi, C.1    Frattini, A.2    Orchard, P.3
  • 18
    • 0027304954 scopus 로고
    • Osteopetrosis: Current clinical considerations
    • Shapiro F. Osteopetrosis: current clinical considerations. Clin Orthop 1993; 294:34-44.
    • (1993) Clin Orthop , vol.294 , pp. 34-44
    • Shapiro, F.1
  • 20
    • 0030774770 scopus 로고    scopus 로고
    • The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene
    • Nurnberg P, Tinschert S, Mrug M, et al. The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. Am J Hum Genet 1997; 61:918-923.
    • (1997) Am J Hum Genet , vol.61 , pp. 918-923
    • Nurnberg, P.1    Tinschert, S.2    Mrug, M.3
  • 21
    • 0344522713 scopus 로고    scopus 로고
    • Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    • Robertson SP, Twigg SR, Sutherland-Smith AJ, et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 2003; 33:487-491.
    • (2003) Nat Genet , vol.33 , pp. 487-491
    • Robertson, S.P.1    Twigg, S.R.2    Sutherland-Smith, A.J.3
  • 22
    • 0018936191 scopus 로고
    • Frontometaphyseal dysplasia: Evidence for X-linked inheritance
    • Gorlin RJ, Winter RB. Frontometaphyseal dysplasia: evidence for X-linked inheritance. Am J Med Genet 1980; 5:81-84.
    • (1980) Am J Med Genet , vol.5 , pp. 81-84
    • Gorlin, R.J.1    Winter, R.B.2
  • 23
    • 0029061195 scopus 로고
    • Frontometaphyseal dysplasia: Neonatal radiographic diagnosis
    • Glass RB, Rosenbaum KN. Frontometaphyseal dysplasia: neonatal radiographic diagnosis. Am J Med Genet 1995; 57:1-5.
    • (1995) Am J Med Genet , vol.57 , pp. 1-5
    • Glass, R.B.1    Rosenbaum, K.N.2
  • 25
    • 0033988241 scopus 로고    scopus 로고
    • Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome
    • Blough RI, Petrij F, Dauwerse JG, et al. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. Am J Med Genet 2000; 90:29-34.
    • (2000) Am J Med Genet , vol.90 , pp. 29-34
    • Blough, R.I.1    Petrij, F.2    Dauwerse, J.G.3
  • 26
    • 18644367647 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity of Seckel syndrome
    • Faivre L, Le Merrer M, Lyonnet S, et al. Clinical and genetic heterogeneity of Seckel syndrome. Am J Med Genet 2002; 112:379-383.
    • (2002) Am J Med Genet , vol.112 , pp. 379-383
    • Faivre, L.1    Le Merrer, M.2    Lyonnet, S.3
  • 28
    • 0037188379 scopus 로고    scopus 로고
    • Molecular findings in symptomatic and pre-symptomatic Alexander disease patients
    • Gorospe JR, Naidu S, Johnson AB, et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology 2002; 58:1494-1500.
    • (2002) Neurology , vol.58 , pp. 1494-1500
    • Gorospe, J.R.1    Naidu, S.2    Johnson, A.B.3
  • 29
    • 0032968640 scopus 로고    scopus 로고
    • The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients
    • Elpeleg ON, Shaag A. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. J Inherit Metab Dis 1999; 22:531-534.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 531-534
    • Elpeleg, O.N.1    Shaag, A.2
  • 30
    • 0032231407 scopus 로고    scopus 로고
    • Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
    • Wilkin DJ, Szabo JK, Cameron R, et al. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 1998; 63:711-716.
    • (1998) Am J Hum Genet , vol.63 , pp. 711-716
    • Wilkin, D.J.1    Szabo, J.K.2    Cameron, R.3
  • 32
    • 0024347941 scopus 로고
    • Hydrocephalus in achondroplasia: The possible role of intracranial venous hypertension
    • Steinbok P, Hall J, Flodmark O. Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg 1989; 71:42-48.
    • (1989) J Neurosurg , vol.71 , pp. 42-48
    • Steinbok, P.1    Hall, J.2    Flodmark, O.3
  • 33
    • 0032962586 scopus 로고    scopus 로고
    • Intrapartum ultrasonographic depiction of fetal malpositioning and mild parietal bone compression in association with large lower segment uterine leiomyoma
    • Sherer DM, Schwartz BM, Mahon TR. Intrapartum ultrasonographic depiction of fetal malpositioning and mild parietal bone compression in association with large lower segment uterine leiomyoma. J Matern Fetal Med 1999; 8:28-31.
    • (1999) J Matern Fetal Med , vol.8 , pp. 28-31
    • Sherer, D.M.1    Schwartz, B.M.2    Mahon, T.R.3
  • 34
    • 0032521181 scopus 로고    scopus 로고
    • Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome
    • Lomri A, Lemonnier J, Hott M, et al. Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. J Clin Invest 1998; 101:1310-1317.
    • (1998) J Clin Invest , vol.101 , pp. 1310-1317
    • Lomri, A.1    Lemonnier, J.2    Hott, M.3
  • 35
    • 0033765258 scopus 로고    scopus 로고
    • Role of the extracellular matrix and growth factors in skull morphogenesis and in the pathogenesis of craniosynostosis
    • Carinci P, Becchetti E, Bodo M. Role of the extracellular matrix and growth factors in skull morphogenesis and in the pathogenesis of craniosynostosis. Int J Dev Biol 2000; 44:715-723.
    • (2000) Int J Dev Biol , vol.44 , pp. 715-723
    • Carinci, P.1    Becchetti, E.2    Bodo, M.3
  • 36
    • 0034522528 scopus 로고    scopus 로고
    • Molecular-clinical spectrum of the ATR-X syndrome
    • Gibbons RJ, Higgs DR. Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 2000; 97:204-212.
    • (2000) Am J Med Genet , vol.97 , pp. 204-212
    • Gibbons, R.J.1    Higgs, D.R.2
  • 37
    • 0036239904 scopus 로고    scopus 로고
    • Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization
    • Adar R, Monsonego-Ornan E, David P, Yayon A. Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization. J Bone Miner Res 2002; 17:860-868.
    • (2002) J Bone Miner Res , vol.17 , pp. 860-868
    • Adar, R.1    Monsonego-Ornan, E.2    David, P.3    Yayon, A.4
  • 40
    • 0035158663 scopus 로고    scopus 로고
    • Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
    • Mavrogiannis LA, Antonopoulou I, Baxova A, et al. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 2001; 27:17-18.
    • (2001) Nat Genet , vol.27 , pp. 17-18
    • Mavrogiannis, L.A.1    Antonopoulou, I.2    Baxova, A.3
  • 45
  • 46
    • 0036654249 scopus 로고    scopus 로고
    • Neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: Radiologic-pathologic correlation
    • Lonergan GJ, Schwab CM, Suarez ES, Carlson CL. Neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: radiologic-pathologic correlation. RadioGraphics 2002; 22:911-934.
    • (2002) RadioGraphics , vol.22 , pp. 911-934
    • Lonergan, G.J.1    Schwab, C.M.2    Suarez, E.S.3    Carlson, C.L.4
  • 47


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.