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Volumn 28, Issue 1, 1998, Pages 43-47

A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: Two siblings born to consanguineous parents

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CONSANGUINITY; DIAPHRAGM HERNIA; DYSPLASIA; ECTOPIC TISSUE; FACE DYSMORPHIA; FEMALE; FOREARM; GRAY MATTER; HUMAN; INTRAHEPATIC BILE DUCT; JAPAN; KIDNEY CYST; LIVER FIBROSIS; MEGAKARYOCYTE; MICROCEPHALY; NEWBORN; OSSIFICATION; PELVIS; PRIORITY JOURNAL; PUBIC BONE; PULMONARY VALVE STENOSIS; SIBLING; THROMBOCYTOPENIA; TRACHEOBRONCHIAL TREE; VERTEBRA BODY;

EID: 0031983775     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470050289     Document Type: Article
Times cited : (8)

References (10)
  • 1
    • 0028046295 scopus 로고
    • Clinical-molecular correlation in the skeletal dysplasias
    • Rimoin DL, Cohn DH, Eyre D (1994) Clinical-molecular correlation in the skeletal dysplasias. Pediatr Radiol 24: 425-426
    • (1994) Pediatr Radiol , vol.24 , pp. 425-426
    • Rimoin, D.L.1    Cohn, D.H.2    Eyre, D.3
  • 2
    • 0025363375 scopus 로고
    • The lethal osteochondrodysplasias
    • Harris H, Hirschhorn K (eds) Plenum Press, New York
    • Spranger J, Maroteaux P (1990) The lethal osteochondrodysplasias. In: Harris H, Hirschhorn K (eds) Advances in human genetics 19. Plenum Press, New York
    • (1990) Advances in Human Genetics 19
    • Spranger, J.1    Maroteaux, P.2
  • 3
    • 0023214678 scopus 로고
    • Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes. Report of 2 new cases
    • Silengo MC, Bell GL, Biagioli M, Franceschini P (1987) Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes. Report of 2 new cases. Clin Genet 31: 331-336
    • (1987) Clin Genet , vol.31 , pp. 331-336
    • Silengo, M.C.1    Bell, G.L.2    Biagioli, M.3    Franceschini, P.4
  • 4
    • 0027958508 scopus 로고
    • Polydactyly, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?
    • Ades LC, Clapton WK, Morphett A, et al (1994) Polydactyly, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV? Am J Med Genet 49: 211-217
    • (1994) Am J Med Genet , vol.49 , pp. 211-217
    • Ades, L.C.1    Clapton, W.K.2    Morphett, A.3
  • 6
    • 0027473527 scopus 로고
    • New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects
    • Gillessen-Kaesbach G, Meinecke P, Garrett C, et al (1993) New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. Am J Med Genet 45: 511-518
    • (1993) Am J Med Genet , vol.45 , pp. 511-518
    • Gillessen-Kaesbach, G.1    Meinecke, P.2    Garrett, C.3
  • 7
    • 0024356910 scopus 로고
    • Lethal form of fibuloulnar a/hypoplasia with renal abnormalities
    • Saito N, Kuba A, Tsuruta T (1989) Lethal form of fibuloulnar a/hypoplasia with renal abnormalities. Am J Med Genet 32: 452-456
    • (1989) Am J Med Genet , vol.32 , pp. 452-456
    • Saito, N.1    Kuba, A.2    Tsuruta, T.3
  • 8
    • 0027463449 scopus 로고
    • Brachymesomelia and Peters anomaly: A new syndrome
    • Kivlin JD, Carey JC, Richey MA (1993) Brachymesomelia and Peters anomaly: a new syndrome. Am J Med Genet 45: 416-419
    • (1993) Am J Med Genet , vol.45 , pp. 416-419
    • Kivlin, J.D.1    Carey, J.C.2    Richey, M.A.3
  • 10
    • 0025778920 scopus 로고
    • Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
    • Faye-Petersen OM, Ward K, Carey JC, Knisely AS (1991) Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension. Am J Med Genet 40: 183-187
    • (1991) Am J Med Genet , vol.40 , pp. 183-187
    • Faye-Petersen, O.M.1    Ward, K.2    Carey, J.C.3    Knisely, A.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.