메뉴 건너뛰기




Volumn 45, Issue 5, 2008, Pages 561-566

22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients

Author keywords

22q11.2 deletion syndrome; Limb anomalies; Velocardiofacial syndrome; Velopharyngeal insufficiency

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; ECTRODACTYLY; FACE MALFORMATION; FEMALE; HUMAN; LIMB MALFORMATION; MALE; PALATOPHARYNGEAL INCOMPETENCE; PRIORITY JOURNAL; SYNOSTOSIS;

EID: 52249095110     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/06-170.1     Document Type: Article
Times cited : (5)

References (28)
  • 2
    • 33746559724 scopus 로고    scopus 로고
    • Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation
    • Breitling M, Lemire EG, Rabin M. Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation. Pediatr Radiol. 2006;36:866-869.
    • (2006) Pediatr Radiol , vol.36 , pp. 866-869
    • Breitling, M.1    Lemire, E.G.2    Rabin, M.3
  • 4
    • 1242341214 scopus 로고    scopus 로고
    • Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: A variant of SHFM1
    • Debeer P. Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1. Clin Genet. 2004;65:153-155.
    • (2004) Clin Genet , vol.65 , pp. 153-155
    • Debeer, P.1
  • 5
    • 0026770066 scopus 로고
    • Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: A new syndrome
    • Der Kaloustian VM, McIntosh N, Silver K, Blaichman S, Halal F. Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome. Am J Med Genet. 1992;43:942-945.
    • (1992) Am J Med Genet , vol.43 , pp. 942-945
    • Der Kaloustian, V.M.1    McIntosh, N.2    Silver, K.3    Blaichman, S.4    Halal, F.5
  • 6
    • 0042632658 scopus 로고    scopus 로고
    • Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies
    • Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet. 2003;63:308-313.
    • (2003) Clin Genet , vol.63 , pp. 308-313
    • Digilio, M.C.1    Angioni, A.2    De Santis, M.3    Lombardo, A.4    Giannotti, A.5    Dallapiccola, B.6    Marino, B.7
  • 7
    • 0035746667 scopus 로고    scopus 로고
    • Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism
    • Dixon ME, Armstrong P, Stevens DB, Bamshad M. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. Genet Med. 2001;3:349-353.
    • (2001) Genet Med , vol.3 , pp. 349-353
    • Dixon, M.E.1    Armstrong, P.2    Stevens, D.B.3    Bamshad, M.4
  • 8
    • 0032557724 scopus 로고    scopus 로고
    • Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene
    • Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet. 1998;77:322-329.
    • (1998) Am J Med Genet , vol.77 , pp. 322-329
    • Graham Jr, J.M.1    Braddock, S.R.2    Mortier, G.R.3    Lachman, R.4    Van Dop, C.5    Jabs, E.W.6
  • 9
    • 0033803217 scopus 로고    scopus 로고
    • Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: Definition of the acro-cardio-facial syndrome
    • Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A. Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome. Clin Dysmorphol. 2000;9:269-272.
    • (2000) Clin Dysmorphol , vol.9 , pp. 269-272
    • Guion-Almeida, M.L.1    Zechi-Ceide, R.M.2    Richieri-Costa, A.3
  • 10
    • 1542288707 scopus 로고    scopus 로고
    • Unilateral radio-ulnar synostosis, generalized hypotonia, and developmental delay with a characteristic facial appearance: A further case report
    • Kannu P, Aftimos S, Winship I. Unilateral radio-ulnar synostosis, generalized hypotonia, and developmental delay with a characteristic facial appearance: a further case report. Am J Med Genet. 2004;125A:321-324.
    • (2004) Am J Med Genet , vol.125 A , pp. 321-324
    • Kannu, P.1    Aftimos, S.2    Winship, I.3
  • 13
    • 23344449227 scopus 로고    scopus 로고
    • Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism
    • Lerone M, Divizia TM, Baban A, Ravazzolo R, Pessagno A, Boero S, Silengo MS. Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism. Am J Med Genet. 2005;137A:106-108.
    • (2005) Am J Med Genet , vol.137 A , pp. 106-108
    • Lerone, M.1    Divizia, T.M.2    Baban, A.3    Ravazzolo, R.4    Pessagno, A.5    Boero, S.6    Silengo, M.S.7
  • 14
    • 0035986905 scopus 로고    scopus 로고
    • 22q11 DS: Genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome
    • Maynard TM, Haskell GT, Lieberman JA, LaMantia AS. 22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome. Int J Dev Neurosci. 2002;20:407-419.
    • (2002) Int J Dev Neurosci , vol.20 , pp. 407-419
    • Maynard, T.M.1    Haskell, G.T.2    Lieberman, J.A.3    LaMantia, A.S.4
  • 16
    • 21644475159 scopus 로고    scopus 로고
    • A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability
    • Mingarelli R, Zuccarello D, Digilio MC, Dallapiccola B. A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability. Am J Med Genet. 2005;136A:84-86.
    • (2005) Am J Med Genet , vol.136 A , pp. 84-86
    • Mingarelli, R.1    Zuccarello, D.2    Digilio, M.C.3    Dallapiccola, B.4
  • 17
    • 0842327784 scopus 로고    scopus 로고
    • Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden
    • Óskarsdóttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89:148-151.
    • (2004) Arch Dis Child , vol.89 , pp. 148-151
    • Óskarsdóttir, S.1    Vujic, M.2    Fasth, A.3
  • 18
    • 33646872434 scopus 로고    scopus 로고
    • Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis
    • Ozkan KU, Coban YK, Uzel M, Ergun M, Oksuz H. Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. Cleft Palate Craniofac J. 2006;43:317-320.
    • (2006) Cleft Palate Craniofac J , vol.43 , pp. 317-320
    • Ozkan, K.U.1    Coban, Y.K.2    Uzel, M.3    Ergun, M.4    Oksuz, H.5
  • 22
    • 12344284088 scopus 로고    scopus 로고
    • Altered functioning of the cingulate gyrus in two cases of chromosome 22q11 deletion syndrome
    • Reif A, Fallgatter AJ, Ehlis AC, Lesch KP. Altered functioning of the cingulate gyrus in two cases of chromosome 22q11 deletion syndrome. Psychiatry Res. 2004;132:273-278.
    • (2004) Psychiatry Res , vol.132 , pp. 273-278
    • Reif, A.1    Fallgatter, A.J.2    Ehlis, A.C.3    Lesch, K.P.4
  • 23
    • 2442574025 scopus 로고    scopus 로고
    • Findings of fibular hemimelia syndrome with radiographically normal fibulae
    • Searle CP, Hildebrand RK, Lester EL, Caskey PM. Findings of fibular hemimelia syndrome with radiographically normal fibulae. J Pediatr Orthop. 2004;13:184-188.
    • (2004) J Pediatr Orthop , vol.13 , pp. 184-188
    • Searle, C.P.1    Hildebrand, R.K.2    Lester, E.L.3    Caskey, P.M.4
  • 24
    • 0034709269 scopus 로고    scopus 로고
    • Spondylocarpotarsal synostosis syndrome and cervical instability
    • Seaver LH, Boyd E. Spondylocarpotarsal synostosis syndrome and cervical instability. Am J Med Genet. 2000;91:340-344.
    • (2000) Am J Med Genet , vol.91 , pp. 340-344
    • Seaver, L.H.1    Boyd, E.2
  • 26
    • 0034158040 scopus 로고    scopus 로고
    • Tarsal coalition
    • Thometz J. Tarsal coalition. Foot Ankle Clin. 2000;5:103-118.
    • (2000) Foot Ankle Clin , vol.5 , pp. 103-118
    • Thometz, J.1
  • 27
    • 0031058266 scopus 로고    scopus 로고
    • The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients
    • Wilming LG, Snoeren CA, van Rijswijk A, Grosveld F, Meijers C. The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Hum Mol Genet. 1997;6:247-258.
    • (1997) Hum Mol Genet , vol.6 , pp. 247-258
    • Wilming, L.G.1    Snoeren, C.A.2    van Rijswijk, A.3    Grosveld, F.4    Meijers, C.5
  • 28
    • 18144417788 scopus 로고    scopus 로고
    • Integrated pseudogene annotation for human chromosome 22: Evidence for transcription
    • Zheng D, Zhang Z, Harrison PM, Karro J, Carriero N, Gerstein M. Integrated pseudogene annotation for human chromosome 22: evidence for transcription. J Mol Biol. 2005;349:27-45.
    • (2005) J Mol Biol , vol.349 , pp. 27-45
    • Zheng, D.1    Zhang, Z.2    Harrison, P.M.3    Karro, J.4    Carriero, N.5    Gerstein, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.