메뉴 건너뛰기




Volumn 90, Issue 2, 2000, Pages 150-154

Ophthalmo-acromelic syndrome: Report and review

Author keywords

Absence of inferior vena cava; Anophthalmia; Autosomal recessive inheritance; Limb anomalies; Ophthalmo acromelic syndrome; Waardenburg

Indexed keywords

ANOPHTHALMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; EYE MALFORMATION; HUMAN; INFANT; INFERIOR CAVA VEIN; LIMB MALFORMATION; MALE; MICROPHTHALMIA; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

EID: 0034677214     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000117)90:2<150::AID-AJMG12>3.0.CO;2-C     Document Type: Article
Times cited : (24)

References (12)
  • 1
    • 0028096493 scopus 로고
    • Microphthalmia and distal limb abnormalities in a child of consanguineous parents
    • Al Gazali LI, Sabarinathan DK, Khidir A. 1994. Microphthalmia and distal limb abnormalities in a child of consanguineous parents. Clin Dysmorphol 3:258-262.
    • (1994) Clin Dysmorphol , vol.3 , pp. 258-262
    • Al Gazali, L.I.1    Sabarinathan, D.K.2    Khidir, A.3
  • 2
    • 0018908650 scopus 로고
    • Ultrasonic diagnosis of infrahepatic interruption of the inferior vena cava with azygos (hemiazygos) continuation
    • Garris JB, Kangarloo H, Sample WF. 1980. Ultrasonic diagnosis of infrahepatic interruption of the inferior vena cava with azygos (hemiazygos) continuation. Radiology 134:179-183.
    • (1980) Radiology , vol.134 , pp. 179-183
    • Garris, J.B.1    Kangarloo, H.2    Sample, W.F.3
  • 4
    • 0031783761 scopus 로고    scopus 로고
    • Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly
    • Mégarbané A, Souraty N, Tamraz J. 1998. Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly. Genet Couns 9:195-199.
    • (1998) Genet Couns , vol.9 , pp. 195-199
    • Mégarbané, A.1    Souraty, N.2    Tamraz, J.3
  • 5
    • 0030017941 scopus 로고    scopus 로고
    • Absence of the inferior vena cava in a patient with omphalocele: Two-dimensional echocardiographic and cineangiographic findings
    • Mori K, Matsuoka S, Hayabuchi Y, Kuroda Y, Kitagawa T. 1996. Absence of the inferior vena cava in a patient with omphalocele: two-dimensional echocardiographic and cineangiographic findings. Heart Vessels 11:104-109.
    • (1996) Heart Vessels , vol.11 , pp. 104-109
    • Mori, K.1    Matsuoka, S.2    Hayabuchi, Y.3    Kuroda, Y.4    Kitagawa, T.5
  • 6
    • 84907113096 scopus 로고
    • A syndrome with true anophthalmia, hand-foot defects and mental retardation
    • Pallotta R, Dallapiccola B. 1984. A syndrome with true anophthalmia, hand-foot defects and mental retardation. Ophthalmic Paediatr Genet 4:19-23.
    • (1984) Ophthalmic Paediatr Genet , vol.4 , pp. 19-23
    • Pallotta, R.1    Dallapiccola, B.2
  • 7
    • 0029340242 scopus 로고
    • Ophthalmo acromelic syndrome
    • Quarrell OW. 1995. Ophthalmo acromelic syndrome. Clin Dysmorphol 4: 272-273.
    • (1995) Clin Dysmorphol , vol.4 , pp. 272-273
    • Quarrell, O.W.1
  • 8
    • 0020558018 scopus 로고
    • Brief clinical report: Autosomal recessive anophthalmia with multiple congenital abnormalities-type Waardenburg
    • Richieri-Costa A, Gollop TR, Otto PG. 1983. Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities-type Waardenburg. Am J Med Genet 14:607-615.
    • (1983) Am J Med Genet , vol.14 , pp. 607-615
    • Richieri-Costa, A.1    Gollop, T.R.2    Otto, P.G.3
  • 9
    • 0029155458 scopus 로고
    • Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes
    • Şayh BS, Akarsu AN, Altan S. 1995. Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes. Am J Med Genet 58:18-20.
    • (1995) Am J Med Genet , vol.58 , pp. 18-20
    • Şayh, B.S.1    Akarsu, A.N.2    Altan, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.