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Volumn 13, Issue 4, 2004, Pages 241-246

Acrocallosal syndrome: Report of five Turkish patients

Author keywords

Acrocallosal; Autosomal recessive; Corpus callosum; Leucomalacia; Mental retardation; Polydactyly

Indexed keywords

ACROCALLOSAL SYNDROME; AGENESIS; ARTICLE; BONE AGE; BONE RADIOGRAPHY; CASE REPORT; CHILD; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; DIZYGOTIC TWINS; FACE DYSMORPHIA; FEMALE; HUMAN; LEUKOMALACIA; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOTOR DYSFUNCTION; MOTOR RETARDATION; MULTIPLE MALFORMATION SYNDROME; POLYDACTYLY; PRIORITY JOURNAL; SYNDACTYLY; CONGENITAL MALFORMATION; INFANT; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; RADIOGRAPHY; SYNDROME; TURKEY (REPUBLIC);

EID: 16644374755     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200410000-00008     Document Type: Article
Times cited : (3)

References (17)
  • 1
    • 0026516427 scopus 로고
    • A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity
    • Çataltepe S, Tuncbilek E (1992). A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. Eur J Pediatr 151:288-290.
    • (1992) Eur J Pediatr , vol.151 , pp. 288-290
    • Çataltepe, S.1    Tuncbilek, E.2
  • 3
    • 0027330324 scopus 로고
    • Varadi syndrome (OFD VI) or Opitz trigonocephaly syndrome: Overlapping manifestations in two cousins
    • Cleper R, Kauschansky A, Varsano I, Frydman M (1993). Varadi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. Am J Med Genet 47:451-455.
    • (1993) Am J Med Genet , vol.47 , pp. 451-455
    • Cleper, R.1    Kauschansky, A.2    Varsano, I.3    Frydman, M.4
  • 5
    • 0031047040 scopus 로고    scopus 로고
    • Acrocallosal syndrome in an Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome
    • Courtens W, Vamos E, Christophe C, Schinzel A (1997). Acrocallosal syndrome in an Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome. Am J Med Genet 69:17-22.
    • (1997) Am J Med Genet , vol.69 , pp. 17-22
    • Courtens, W.1    Vamos, E.2    Christophe, C.3    Schinzel, A.4
  • 6
    • 0036850976 scopus 로고    scopus 로고
    • De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
    • Elson E, Perveen R, Donnai D, Wall S, Black GC (2002). De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 39:804-806.
    • (2002) J Med Genet , vol.39 , pp. 804-806
    • Elson, E.1    Perveen, R.2    Donnai, D.3    Wall, S.4    Black, G.C.5
  • 7
    • 0031180917 scopus 로고    scopus 로고
    • Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: An example of the variable clinical spectrum of the Acrocallosal syndrome?
    • Fryns JP, Devriendt K, Legius E (1997). Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? Clin Dysmorphol 6:285-286.
    • (1997) Clin Dysmorphol , vol.6 , pp. 285-286
    • Fryns, J.P.1    Devriendt, K.2    Legius, E.3
  • 11
    • 0026534950 scopus 로고
    • Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3
    • Pfeiffer RA, Legat G, Trautmann U (1992). Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. Ann Genet 35:41-46.
    • (1992) Ann Genet , vol.35 , pp. 41-46
    • Pfeiffer, R.A.1    Legat, G.2    Trautmann, U.3
  • 12
    • 0029931942 scopus 로고    scopus 로고
    • Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome"
    • Rauch A, Trautmann U, Pfeiffer RA (1996). Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". Am J Med Genet 63:243-249.
    • (1996) Am J Med Genet , vol.63 , pp. 243-249
    • Rauch, A.1    Trautmann, U.2    Pfeiffer, R.A.3
  • 13
    • 0018409294 scopus 로고
    • Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: A new syndrome
    • Schinzel A (1979). Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome. Helv Paediat Acta 34:141-146.
    • (1979) Helv Paediat Acta , vol.34 , pp. 141-146
    • Schinzel, A.1
  • 14
    • 0023028120 scopus 로고
    • The acrocallosal syndrome in sisters
    • Schinzel A, Kaufmann U (1986). The acrocallosal syndrome in sisters. Clin Genet 30:399-405.
    • (1986) Clin Genet , vol.30 , pp. 399-405
    • Schinzel, A.1    Kaufmann, U.2
  • 16
    • 0033361898 scopus 로고    scopus 로고
    • Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25
    • Visapaa I, Salonen R, Varilo T, Paavola P, Peltonen L (1999). Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. Am J Hum Genet 65:1086-1095.
    • (1999) Am J Hum Genet , vol.65 , pp. 1086-1095
    • Visapaa, I.1    Salonen, R.2    Varilo, T.3    Paavola, P.4    Peltonen, L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.