메뉴 건너뛰기




Volumn 23, Issue 3, 2010, Pages 208-214

Spinal deformity in patients with DiGeorge syndrome

Author keywords

DiGeorge syndrome; Microdeletion 22q11.2; Scoliosis; Spinal deformity; Treatment

Indexed keywords

ADOLESCENT; ARTHRODESIS; ARTICLE; BLOOD TRANSFUSION; BONE GRAFT; BRACE; CASE REPORT; CASE STUDY; CLINICAL FEATURE; DIGEORGE SYNDROME; FEMALE; GRAFT VERSUS HOST REACTION; HUMAN; KYPHOSIS; LUMBAR SPINE; MALE; MEDICAL INSTRUMENTATION; MEDICAL RECORD REVIEW; POSTOPERATIVE INFECTION; PRIORITY JOURNAL; SCOLIOSIS; SPINE MALFORMATION; SPINE RADIOGRAPHY; THORACOLUMBAR SPINE; TREATMENT OUTCOME; WOUND HEALING;

EID: 77952208002     PISSN: 15360652     EISSN: None     Source Type: Journal    
DOI: 10.1097/BSD.0b013e31819f9baa     Document Type: Article
Times cited : (8)

References (28)
  • 1
    • 0000399572 scopus 로고
    • Congenital absence of the thymus and its immunologic consequences: Concurrence with congenital hypopar-athyroidism
    • DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypopar-athyroidism. Birth Defects Orig Art Ser IV (1). 1968;1:116-121.
    • (1968) Birth Defects Orig Art Ser IV (1) , vol.1 , pp. 116-121
    • DiGeorge, A.M.1
  • 2
    • 0035196580 scopus 로고    scopus 로고
    • Immunologic features of chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome)
    • Jawad AF, McDonald-McGinn DM, Zackai E, et al. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001;139:715-723.
    • (2001) J. Pediatr. , vol.139 , pp. 715-723
    • Jawad, A.F.1    McDonald-McGinn, D.M.2    Zackai, E.3
  • 4
    • 0023919253 scopus 로고
    • The digeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome
    • Muller W, Peter HH, Wilken M, et al. The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome. Eur J Pediatr. 1988;147:496-502.
    • (1988) Eur. J. Pediatr. , vol.147 , pp. 496-502
    • Muller, W.1    Peter, H.H.2    Wilken, M.3
  • 5
    • 0024310736 scopus 로고
    • The digeorge sequence. II. Immunologic findings in partial and complete forms of the disorder
    • Muller W, Peter HH, Kallfelz HC, et al. The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder. Eur J Pediatr. 1989;149:96-103.
    • (1989) Eur. J. Pediatr. , vol.149 , pp. 96-103
    • Muller, W.1    Peter, H.H.2    Kallfelz, H.C.3
  • 6
    • 0024430847 scopus 로고
    • Prediction of persistent immunodeficiency in the digeorge anomaly
    • Bastian J, Law S, Vogler L, et al. Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr. 1989;115:391-396.
    • (1989) J. Pediatr. , vol.115 , pp. 391-396
    • Bastian, J.1    Law, S.2    Vogler, L.3
  • 7
    • 21644463843 scopus 로고    scopus 로고
    • Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome
    • Fernandez L, Lapunzina P, Lopez Pajares I, et al. Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome. Am J Med Genet. 2005;136A: 71-75.
    • (2005) Am. J. Med. Genet. , vol.136 A , pp. 71-75
    • Fernandez, L.1    Lapunzina, P.2    Pajares, I.L.3
  • 8
    • 0032790898 scopus 로고    scopus 로고
    • A common molecular basis for rearrangement disorders on chromosome 22q11
    • Edelmann L, Pandita RK, Spiteri E, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999;8:1157-1167.
    • (1999) Hum Mol. Genet. , vol.8 , pp. 1157-1167
    • Edelmann, L.1    Pandita, R.K.2    Spiteri, E.3
  • 9
    • 0033358603 scopus 로고    scopus 로고
    • A common breakpoint on 11q23 in carriers of the constitutional t (11;22) translocation
    • Edelmann L, Spiteri E, McCain N, et al. A common breakpoint on 11q23 in carriers of the constitutional t (11;22) translocation. Am J Med Genet. 1999;65:1608-1616.
    • (1999) Am. J. Med. Genet. , vol.65 , pp. 1608-1616
    • Edelmann, L.1    Spiteri, E.2    McCain, N.3
  • 10
    • 0038419517 scopus 로고    scopus 로고
    • A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
    • Botto LD, May K, Fernhoff P, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101-107.
    • (2003) Pediatrics , vol.112 , pp. 101-107
    • Botto, L.D.1    May, K.2    Fernhoff, P.3
  • 11
    • 0031671548 scopus 로고    scopus 로고
    • A population study of chromosome 22q11 deletions in infancy
    • Goodship J, Cross I, LiLing J, et al. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998;79:348-351.
    • (1998) Arch. Dis. Child , vol.79 , pp. 348-351
    • Goodship, J.1    Cross, I.2    LiLing, J.3
  • 12
    • 0031844288 scopus 로고    scopus 로고
    • The annual incidence of digeorge/velocardiofacial syndrome
    • Devriendt K, Fryns JP, Mortier G, et al. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet. 1998;35:789-790.
    • (1998) J. Med. Genet. , vol.35 , pp. 789-790
    • Devriendt, K.1    Fryns, J.P.2    Mortier, G.3
  • 13
  • 14
    • 0025796855 scopus 로고
    • Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
    • Scambler PJ, Carey AH, Wyse RK, et al. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics. 1991;10:201-206.
    • (1991) Genomics , vol.10 , pp. 201-206
    • Scambler, P.J.1    Carey, A.H.2    Wyse, R.K.3
  • 15
    • 0027459424 scopus 로고
    • Confirmation that the velo-cardio-facial syndrome is associated with haploinsufficiency of genes at chromosome 22q11
    • Kelly D, Goldberg G, Wilson D, et al. Confirmation that the velo-cardio-facial syndrome is associated with haploinsufficiency of genes at chromosome 22q11. Am J Med Genet. 1993;45:308-312.
    • (1993) Am. J. Med. Genet. , vol.45 , pp. 308-312
    • Kelly, D.1    Goldberg, G.2    Wilson, D.3
  • 16
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
    • Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet. 1993;30:813-817.
    • (1993) J. Med. Genet. , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3
  • 18
    • 0032869065 scopus 로고    scopus 로고
    • Musculoskeletal abnormalities in velocardiofacial syndrome
    • Pollard ME, Cushing MV, Ogden JA. Musculoskeletal abnormalities in velocardiofacial syndrome. J Pediatr Orthop. 1999;19:607-612.
    • (1999) J. Pediatr. Orthop , vol.19 , pp. 607-612
    • Pollard, M.E.1    Cushing, M.V.2    Ogden, J.A.3
  • 19
  • 20
    • 27444447025 scopus 로고    scopus 로고
    • Clinical features of 78 adults with 22q11 deletion syndrome
    • Bassett AS, Chow EWC, Husted J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet. 2005;138A: 307-313.
    • (2005) Am. J. Med. Genet. , vol.138 A , pp. 307-313
    • Bassett, A.S.1    Chow, E.W.C.2    Husted, J.3
  • 21
    • 0027372307 scopus 로고
    • Velocardiofacial syndrome in a mother and daughter: Variability of the clinical phenotype
    • Holder SE, Winter RM, Kamath S, et al. Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. J Med Genet. 1993;30:1825-827.
    • (1993) J. Med. Genet. , vol.30 , pp. 1825-1827
    • Holder, S.E.1    Winter, R.M.2    Kamath, S.3
  • 22
    • 0028943334 scopus 로고
    • Submicroscopic deletions at 22q11.2 variability of the clinical picture and delineation of a commonly deleted region
    • Lindsay EA, Greenberg F, Shaffer LG, et al. Submicroscopic deletions at 22q11.2 variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet. 1995;56:191-197.
    • (1995) Am. J. Med. Genet. , vol.56 , pp. 191-197
    • Lindsay, E.A.1    Greenberg, F.2    Shaffer, L.G.3
  • 23
    • 16944364802 scopus 로고    scopus 로고
    • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
    • Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European Collaborative Study. J Med Genet. 1997;34:798-804.
    • (1997) J. Med. Genet. , vol.34 , pp. 798-804
    • Ryan, A.K.1    Goodship, J.A.2    Wilson, D.I.3
  • 24
    • 0017127130 scopus 로고
    • Scoliosis Research Society Terminology Committee. A glossary of scoliosis terms
    • Scoliosis Research Society Terminology Committee. A glossary of scoliosis terms. Spine. 1976;1:57-58.
    • (1976) Spine , vol.1 , pp. 57-58
  • 26
    • 0029037484 scopus 로고
    • Scoliosis and congenital heart disease
    • Kawakami N, Mimatsu K, Deguchi M, et al. Scoliosis and congenital heart disease. Spine. 1995;20:1252.
    • (1995) Spine , vol.20 , pp. 1252
    • Kawakami, N.1    Mimatsu, K.2    Deguchi, M.3
  • 27
    • 0018132410 scopus 로고
    • Causes of death, right ventricular hypertrophy, and congenital heart disease in scoliosis
    • Shneerson JM, Sutton GC, Zorab PA. Causes of death, right ventricular hypertrophy, and congenital heart disease in scoliosis. Clin Orthop. 1978;135:52-57.
    • (1978) Clin. Orthop. , vol.135 , pp. 52-57
    • Shneerson, J.M.1    Sutton, G.C.2    Zorab, P.A.3
  • 28
    • 0031215021 scopus 로고    scopus 로고
    • Isolation and characterization of a gene from the digeorge chromosomal region homologous to the mouse tbx1 gene
    • Chieffo C, Garvey N, Gong W, et al. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics. 1997;43:267-277.
    • (1997) Genomics , vol.43 , pp. 267-277
    • Chieffo, C.1    Garvey, N.2    Gong, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.