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Volumn 62, Issue 3, 1996, Pages 276-281

Further delineation of the acro-renal-ocular syndrome

Author keywords

acro renal ocular syndrome; autosomal dominant inheritance; Duane anomaly; eye coloboma; radial ray defects; renal ectopia; upper limb abnormalities

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; COLOBOMA; DUANE RETRACTION SYNDROME; ECTOPIC KIDNEY; FEMALE; HUMAN; KIDNEY MALFORMATION; MALE; MALFORMATION SYNDROME; PRIORITY JOURNAL; SYNDROME DELINEATION; THUMB MALFORMATION;

EID: 0029998684     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO;2-H     Document Type: Article
Times cited : (16)

References (15)
  • 1
    • 84907113750 scopus 로고
    • Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality
    • Alsing A, Christensen C (1988): Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality. Ophthal Paed Genet 9:149-155.
    • (1988) Ophthal Paed Genet , vol.9 , pp. 149-155
    • Alsing, A.1    Christensen, C.2
  • 2
    • 0026701702 scopus 로고
    • Patterns of acrorenal malformation associations
    • Evans JA, Vitez M, Czeizel A (1992): Patterns of acrorenal malformation associations. Am J Med Genet 44:413-419.
    • (1992) Am J Med Genet , vol.44 , pp. 413-419
    • Evans, J.A.1    Vitez, M.2    Czeizel, A.3
  • 3
    • 0013958936 scopus 로고
    • Simultaneous occurrence of the Holt-Oram and the Duane syndromes
    • Ferrell RL, Jones B, Lucas RV (1966): Simultaneous occurrence of the Holt-Oram and the Duane syndromes. J Pediatr 69:630-634.
    • (1966) J Pediatr , vol.69 , pp. 630-634
    • Ferrell, R.L.1    Jones, B.2    Lucas, R.V.3
  • 4
    • 0015389787 scopus 로고
    • Fehlbildungs-Retardierungs-Syndrom mit Spalthänden-Spaltfüssen, Iriskolobom, Nierenagenesie und Ventrikelseptumdefekt
    • Gehler J, Grosse R (1972): Fehlbildungs-Retardierungs-Syndrom mit Spalthänden-Spaltfüssen, Iriskolobom, Nierenagenesie und Ventrikelseptumdefekt. Klin Pad 184:389-392.
    • (1972) Klin Pad , vol.184 , pp. 389-392
    • Gehler, J.1    Grosse, R.2
  • 5
    • 0021220678 scopus 로고
    • Acro-renal-ocular syndrome: Autosomal dominant thumb hypoplasia, renal ectopia and eye defect
    • Halal F, Homsy M, Perreault G (1984): Acro-renal-ocular syndrome: Autosomal dominant thumb hypoplasia, renal ectopia and eye defect. Am J Med Genet 17:753-762.
    • (1984) Am J Med Genet , vol.17 , pp. 753-762
    • Halal, F.1    Homsy, M.2    Perreault, G.3
  • 6
    • 0022227078 scopus 로고
    • The Okihiro syndrome and Duane anomaly, radial ray abnormalities and deafness
    • Hayes A, Costa T, Polomeno RC (1985): The Okihiro syndrome and Duane anomaly, radial ray abnormalities and deafness. Am J Med Genet 22:273-280.
    • (1985) Am J Med Genet , vol.22 , pp. 273-280
    • Hayes, A.1    Costa, T.2    Polomeno, R.C.3
  • 7
    • 0016120604 scopus 로고
    • Phocomelia, flexion deformities and absent thumbs: A new hereditary upper limb malformation
    • Holmes LB, Borden S (1974): Phocomelia, flexion deformities and absent thumbs: A new hereditary upper limb malformation. Pediatrics 54: 461-465.
    • (1974) Pediatrics , vol.54 , pp. 461-465
    • Holmes, L.B.1    Borden, S.2
  • 8
    • 0023257444 scopus 로고
    • Radial ray defect and Duane anomaly: Report of a family with autosomal dominant transmission
    • McDermot KD, Winter RM (1987): Radial ray defect and Duane anomaly: Report of a family with autosomal dominant transmission. Am J Med Genet 27:313-319.
    • (1987) Am J Med Genet , vol.27 , pp. 313-319
    • McDermot, K.D.1    Winter, R.M.2
  • 11
    • 84907116005 scopus 로고
    • A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects?
    • Pierquin G, Hall M, Vanhelleputte C, Van Regemorter N (1991): A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? Ophthalmol Paed Genet 12:183-186.
    • (1991) Ophthalmol Paed Genet , vol.12 , pp. 183-186
    • Pierquin, G.1    Hall, M.2    Vanhelleputte, C.3    Van Regemorter, N.4
  • 12
    • 0002326109 scopus 로고
    • Congenital coloboma of the macula, together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of the hands and feet
    • Sorsby A (1935): Congenital coloboma of the macula, together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of the hands and feet. Br J Ophthalmol 19:65-90.
    • (1935) Br J Ophthalmol , vol.19 , pp. 65-90
    • Sorsby, A.1
  • 13
    • 0018250541 scopus 로고
    • "The Genetics of Hand Malformation," Part XIV
    • Temtamy S, McKusick VA (eds) Bergsma D (ed): New York: Alan R. Liss, Inc. for the National Foundation-March of Dimes
    • Temtamy S, McKusick VA (eds) (1978): "The Genetics of Hand Malformation," Part XIV. In Bergsma D (ed): New York: Alan R. Liss, Inc. for the National Foundation-March of Dimes, BD:OAS XIV (3): 133-135.
    • (1978) BD:OAS , vol.14 , Issue.3 , pp. 133-135
  • 14
    • 0023884205 scopus 로고
    • Sorsby syndrome: A report on further generations of the original family
    • Thompson EM, Baraitser M (1988): Sorsby syndrome: A report on further generations of the original family. J Med Genet 25:313-321.
    • (1988) J Med Genet , vol.25 , pp. 313-321
    • Thompson, E.M.1    Baraitser, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.