메뉴 건너뛰기




Volumn 20, Issue 5, 2005, Pages 410-414

Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome)

Author keywords

Absent fibula; Short rib polydactyly syndromes; SRPS type 1 (Saldino Noonan); SRPS type 3 (Verma Naumoff)

Indexed keywords

APLASIA; ARTICLE; AUTOPSY; BONE DEFORMATION; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHONDRODYSPLASIA; FETUS; FETUS ECHOGRAPHY; FIBULA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDROPS; HYPOPLASIA; ILIAC BONE; KARYOTYPE 46,XY; METAPHYSIS; POLYDACTYLY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIODIAGNOSIS; SHORT LIMBED DWARFISM; THORAX MALFORMATION; VERMA NAUMOFF SYNDROME; VISCERA;

EID: 23944522777     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000086822     Document Type: Article
Times cited : (6)

References (19)
  • 1
    • 0015291731 scopus 로고
    • Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine and multiple visceral anomalies
    • Saldino RM, Noonan CD: Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine and multiple visceral anomalies. Am J Roentgenol 1972;114:257-263.
    • (1972) Am J Roentgenol , vol.114 , pp. 257-263
    • Saldino, R.M.1    Noonan, C.D.2
  • 2
    • 0015172723 scopus 로고
    • Polysyndaktylie, verkürzte Gliedmassen und Genitalfehlbildungen: Kennzeichen eines selbstständigen Syndroms?
    • Majevski F, Pfeiffer RA, Lenz W, Mueller R, Feil G, Seiler R: Polysyndaktylie, verkürzte Gliedmassen und Genitalfehlbildungen: Kennzeichen eines selbstständigen Syndroms? Z Kinderheilkd 1971;111:118-138.
    • (1971) Z Kinderheilkd , vol.111 , pp. 118-138
    • Majevski, F.1    Pfeiffer, R.A.2    Lenz, W.3    Mueller, R.4    Feil, G.5    Seiler, R.6
  • 3
    • 0016731719 scopus 로고
    • An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia polydactyly and genital anomalies
    • Verma IC, Bhargaya S, Agarwal S: An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia polydactyly and genital anomalies. Birth Defects Orig Art Ser 1975;11:167-174.
    • (1975) Birth Defects Orig Art Ser , vol.11 , pp. 167-174
    • Verma, I.C.1    Bhargaya, S.2    Agarwal, S.3
  • 6
    • 0025363375 scopus 로고
    • The lehal osteochondrodysplasias
    • Harrias H, Hirschhorn K (eds): New York, Plenum Press
    • Spranger J, Maroteaux P: The lehal osteochondrodysplasias; in Harrias H, Hirschhorn K (eds): Advances in Human Genetics. New York, Plenum Press, 1990, pp 1-101.
    • (1990) Advances in Human Genetics , pp. 1-101
    • Spranger, J.1    Maroteaux, P.2
  • 7
    • 0031754696 scopus 로고    scopus 로고
    • Short-rib-polydactyly syndrome type Verma-Naumoff-LeMarec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities
    • Hentze S, Sergi C, Troeger J, Revell PA, Otto HF, Tariverdian G: Short-rib-polydactyly syndrome type Verma-Naumoff-LeMarec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities. Am J Med Genet 1998;80:281-285.
    • (1998) Am J Med Genet , vol.80 , pp. 281-285
    • Hentze, S.1    Sergi, C.2    Troeger, J.3    Revell, P.A.4    Otto, H.F.5    Tariverdian, G.6
  • 8
    • 0021956638 scopus 로고
    • Short-rib-polydactyly-syndrome: A single or heterogeneous entity? A reevaluation prompted by four new cases
    • Bernstein R, Isdale J, Pinto M, Du Toit Zaijman J, Jenkins T: Short-rib-polydactyly-syndrome: a single or heterogeneous entity? A reevaluation prompted by four new cases. J Med Genet 1985;22:46-53.
    • (1985) J Med Genet , vol.22 , pp. 46-53
    • Bernstein, R.1    Isdale, J.2    Pinto, M.3    Du Toit Zaijman, J.4    Jenkins, T.5
  • 9
    • 0033961102 scopus 로고    scopus 로고
    • Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorders
    • Ho NC, Francomana CA, Van Allen M: Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorders. Am J Med Genet 2000;90:310-314.
    • (2000) Am J Med Genet , vol.90 , pp. 310-314
    • Ho, N.C.1    Francomana, C.A.2    Van Allen, M.3
  • 10
    • 0027454440 scopus 로고
    • Short-rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: A new type of SRPS or a more severe expression of a known SRPS entity?
    • Martinez-Frias MI, Bermejo E, Urioste M, Egties J, Lopez Soler JA: Short-rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity? Am J Med Genet 1993;47:782-787.
    • (1993) Am J Med Genet , vol.47 , pp. 782-787
    • Martinez-Frias, M.I.1    Bermejo, E.2    Urioste, M.3    Egties, J.4    Lopez Soler, J.A.5
  • 12
    • 0029056412 scopus 로고
    • Short-rib-polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening: A case report
    • Meizner I, Barnhard Y: Short-rib-polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening: a case report. Prenat Diag 1995;15:665-668.
    • (1995) Prenat Diag , vol.15 , pp. 665-668
    • Meizner, I.1    Barnhard, Y.2
  • 13
    • 0022379616 scopus 로고
    • Prenatal ultrasonic diagnosis of short-rib-polydactyly syndrome (SRPS) type III: A case report and a proposed approach to the diagnosis of SRPS and related conditions
    • Meizner I, Bar-Ziv J: Prenatal ultrasonic diagnosis of short-rib-polydactyly syndrome (SRPS) type III: A case report and a proposed approach to the diagnosis of SRPS and related conditions. J Clin Ultrasound 1985;13:284-287.
    • (1985) J Clin Ultrasound , vol.13 , pp. 284-287
    • Meizner, I.1    Bar-Ziv, J.2
  • 16
    • 0016526502 scopus 로고
    • Saldino-Noonanshort-rib-polydactyly dwarfism syndrome
    • Lowry RB, Wignalle N: Saldino-Noonanshort-rib-polydactyly dwarfism syndrome. Pediatrics 1975;56:121-123.
    • (1975) Pediatrics , vol.56 , pp. 121-123
    • Lowry, R.B.1    Wignalle, N.2
  • 17
    • 0019177947 scopus 로고
    • Short rib polydactyly syndrome type 3 with chondrocytic inclusions: Report of a case and review of the literature
    • Yang SS, Lin C, Al Saadi A, Nangia BS, Bernstein J: Short rib polydactyly syndrome type 3 with chondrocytic inclusions: report of a case and review of the literature. Am J Med Genet 1980;7:205-213.
    • (1980) Am J Med Genet , vol.7 , pp. 205-213
    • Yang, S.S.1    Lin, C.2    Al Saadi, A.3    Nangia, B.S.4    Bernstein, J.5
  • 18
    • 0028032336 scopus 로고
    • De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short-rib-polydactyly syndrome with special consideration of short rib polydactyly syndrome
    • Chen H, Mirkin D, Yang S: De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short-rib-polydactyly syndrome with special consideration of short rib polydactyly syndrome. Am J Med Genet 1994;53:165-171.
    • (1994) Am J Med Genet , vol.53 , pp. 165-171
    • Chen, H.1    Mirkin, D.2    Yang, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.