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Volumn 17, Issue 4, 2006, Pages 449-455

Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): Report of a new Italian case with renal anomaly and review

Author keywords

Anophthalmia; Anophthalmia Waardenburg syndrome; Anophthalmos with limb anomalies; Four toes; Limb anomalies; Microphthalmia; Synostosis of the fourth and fifth metacarpals; Waardenburg opththalmo acromelic syndrome

Indexed keywords

ABDOMINAL RADIOGRAPHY; ANOPHTHALMIA; CASE REPORT; FOOT MALFORMATION; HUMAN; ITALY; KIDNEY MALFORMATION; KIDNEY SCINTISCANNING; LIMB MALFORMATION; MALE; MICROPHTHALMIA; PHYSICAL EXAMINATION; REVIEW; SYNDACTYLY; SYNOSTOSIS; WAARDENBURG OPHTHALMO ACROMELIC SYNDROME;

EID: 33847248856     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (18)

References (16)
  • 1
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    • Microphthalmia and distal limb abnormalities in a child of consanguineous parents
    • AL GAZALI L.I., SABARINATHAN D.K., KHIDIR A.: Microphthalmia and distal limb abnormalities in a child of consanguineous parents. Clin. Dysmorphol., 1994, 3, 258-262.
    • (1994) Clin. Dysmorphol , vol.3 , pp. 258-262
    • AL GAZALI, L.I.1    SABARINATHAN, D.K.2    KHIDIR, A.3
  • 2
  • 3
  • 6
    • 0031783761 scopus 로고    scopus 로고
    • Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly
    • MEGARABANE A., SURATY N., TAMRAZ J.: Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly. Genet. Couns., 1998, 9, 195-198.
    • (1998) Genet. Couns , vol.9 , pp. 195-198
    • MEGARABANE, A.1    SURATY, N.2    TAMRAZ, J.3
  • 7
    • 84907113096 scopus 로고
    • A syndrome with true anophthalmia, hand-foot defects and mental retardation
    • PALLOTTA R., DALLAPICCOLA B.: A syndrome with true anophthalmia, hand-foot defects and mental retardation. Ophthal. Paediatr. Genet., 1984, 4, 19-23.
    • (1984) Ophthal. Paediatr. Genet , vol.4 , pp. 19-23
    • PALLOTTA, R.1    DALLAPICCOLA, B.2
  • 8
    • 0029340242 scopus 로고
    • Ophthalmo-acromelic syndrome
    • QUARREL O.W.: Ophthalmo-acromelic syndrome. Clin. Dysmorphol., 1995, 4, 272-273.
    • (1995) Clin. Dysmorphol , vol.4 , pp. 272-273
    • QUARREL, O.W.1
  • 9
    • 0020558018 scopus 로고
    • Brief clinical report: Autosomal recessive anophthalmia with multiple congenital abnormalities type Waardenburg
    • RICHIERI-COSTA A., GOLLOP T.R., OTTO P.G.: Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities type Waardenburg. Am. J. Med Genet., 1983, 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
  • 10
    • 0029155458 scopus 로고
    • Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes
    • SAYLI B.S., AKARSU A.N., ALTAN S.: Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes. Am. J. Med. Genet, 1995, 58, 18-20.
    • (1995) Am. J. Med. Genet , vol.58 , pp. 18-20
    • SAYLI, B.S.1    AKARSU, A.N.2    ALTAN, S.3
  • 15
    • 0005058691 scopus 로고
    • Urinary tract
    • R.E. Stevenson, J. Hall, R.M. Goodman eds, New York, Oxford, Oxford University Press
    • VAN ALLEN M.I.: Urinary tract. In: Human Malformations and Related Anomalies. R.E. Stevenson, J. Hall, R.M. Goodman (eds). New York, Oxford, Oxford University Press, 1993, 501-562.
    • (1993) Human Malformations and Related Anomalies , pp. 501-562
    • VAN ALLEN, M.I.1
  • 16
    • 0344330593 scopus 로고
    • Autosomally- recessive anophthalmia with malformations of the hands and feet
    • Assen, The Netherlands, Royal Van Gorcum
    • WAARDENBURG P.J., FRANCESCHETTI A., KLEIN D.: Autosomally- recessive anophthalmia with malformations of the hands and feet. In: Genetics and Ophthalmology. Assen, The Netherlands, Royal Van Gorcum, 1961, 773-774.
    • (1961) Genetics and Ophthalmology , pp. 773-774
    • WAARDENBURG, P.J.1    FRANCESCHETTI, A.2    KLEIN, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.