메뉴 건너뛰기




Volumn 27, Issue 3, 2007, Pages 222-227

Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images

Author keywords

Enlarged metopic suture; Fetal dysmorphology; Hypophosphatasia; Lethal form; Osseous dysplasia; Prenatal osseous spurs

Indexed keywords

PHOSPHATASE; TISSUE NONSPECIFIC ALKALINE PHOSPHATASE; UNCLASSIFIED DRUG;

EID: 33947359503     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1648     Document Type: Article
Times cited : (25)

References (28)
  • 1
    • 0025766004 scopus 로고
    • First-trimester prenatal diagnosis of hypophosphatasia: Experience with 16 cases
    • Brock DJ, Barron L. 1991. First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases. Prenat Diagn 11: 387-391.
    • (1991) Prenat Diagn , vol.11 , pp. 387-391
    • Brock, D.J.1    Barron, L.2
  • 2
    • 0036168138 scopus 로고    scopus 로고
    • Three-dimensional ultrasonography of osteogenesis imperfecta at early pregnancy
    • Chang LW, Chang CH, Yu CH, Chang FM. 2002. Three-dimensional ultrasonography of osteogenesis imperfecta at early pregnancy. Prenat Diagn 22(1): 77-78.
    • (2002) Prenat Diagn , vol.22 , Issue.1 , pp. 77-78
    • Chang, L.W.1    Chang, C.H.2    Yu, C.H.3    Chang, F.M.4
  • 3
    • 0001206301 scopus 로고
    • Hypophosphatasia
    • Fraser D. 1957. Hypophosphatasia. Am J Med 22: 730-746.
    • (1957) Am J Med , vol.22 , pp. 730-746
    • Fraser, D.1
  • 4
    • 0025181430 scopus 로고
    • Infantile hypophosphatasia: Localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers
    • Greenberg CR, Evans JA, McKendry-Smith S, et al. 1990. Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 46: 286-292.
    • (1990) Am J Hum Genet , vol.46 , pp. 286-292
    • Greenberg, C.R.1    Evans, J.A.2    McKendry-Smith, S.3
  • 5
    • 0035990115 scopus 로고    scopus 로고
    • Achondrogenesis type II with normally developed extremities: A case report
    • Kocakoc E, Kiris A. 2002. Achondrogenesis type II with normally developed extremities: a case report. Prenat Diagn 22(7): 594-597.
    • (2002) Prenat Diagn , vol.22 , Issue.7 , pp. 594-597
    • Kocakoc, E.1    Kiris, A.2
  • 6
  • 7
    • 0038189916 scopus 로고    scopus 로고
    • Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias
    • Krakow D, Williams J 3rd, Poehl M, Rimoin DL, Piatt LD. 2003. Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol 21(5): 467-472.
    • (2003) Ultrasound Obstet Gynecol , vol.21 , Issue.5 , pp. 467-472
    • Krakow, D.1    Williams 3rd, J.2    Poehl, M.3    Rimoin, D.L.4    Piatt, L.D.5
  • 8
    • 0035863661 scopus 로고    scopus 로고
    • Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester
    • Makrydimas G, Souka A, Skentou H, Lolis D, Nicolaides K. 2001. Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester. Am J Med Genet 98(2): 117-120.
    • (2001) Am J Med Genet , vol.98 , Issue.2 , pp. 117-120
    • Makrydimas, G.1    Souka, A.2    Skentou, H.3    Lolis, D.4    Nicolaides, K.5
  • 9
    • 0034113511 scopus 로고    scopus 로고
    • Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene
    • Mornet E. 2000. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat 15(4): 309-315.
    • (2000) Hum Mutat , vol.15 , Issue.4 , pp. 309-315
    • Mornet, E.1
  • 10
    • 13144249219 scopus 로고    scopus 로고
    • Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
    • Mornet E, Taillandier A, Peyramaure S, et al. 1998. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet 6: 308-314.
    • (1998) Eur J Hum Genet , vol.6 , pp. 308-314
    • Mornet, E.1    Taillandier, A.2    Peyramaure, S.3
  • 11
    • 0032818867 scopus 로고    scopus 로고
    • Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia
    • Mornet E, Muller F, Ngo S, et al. 1999. Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia. Prenat Diagn 19: 755-757.
    • (1999) Prenat Diagn , vol.19 , pp. 755-757
    • Mornet, E.1    Muller, F.2    Ngo, S.3
  • 12
    • 0025820116 scopus 로고
    • First-trimester diagnosis of hypophosphatasia. Importance of gestational age and purity of CV samples
    • Muller F, Oury JF, Bussiere P, Lewin F, Boue J. 1991. First-trimester diagnosis of hypophosphatasia. Importance of gestational age and purity of CV samples. Prenat Diagn 11: 725-730.
    • (1991) Prenat Diagn , vol.11 , pp. 725-730
    • Muller, F.1    Oury, J.F.2    Bussiere, P.3    Lewin, F.4    Boue, J.5
  • 13
    • 0024327088 scopus 로고
    • Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity
    • Oestreich AE, Bofinger MK. 1989. Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. Pediatr Radiol 19(5): 341-342.
    • (1989) Pediatr Radiol , vol.19 , Issue.5 , pp. 341-342
    • Oestreich, A.E.1    Bofinger, M.K.2
  • 15
    • 0000034593 scopus 로고
    • Hypophosphatasia
    • Rathbun J. 1948. Hypophosphatasia. Am J Dis Child 75: 822-831.
    • (1948) Am J Dis Child , vol.75 , pp. 822-831
    • Rathbun, J.1
  • 17
    • 4043074926 scopus 로고    scopus 로고
    • Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography
    • Ruano R, Molho M, Roume J, Ville Y. 2004. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol 24(2): 134-140.
    • (2004) Ultrasound Obstet Gynecol , vol.24 , Issue.2 , pp. 134-140
    • Ruano, R.1    Molho, M.2    Roume, J.3    Ville, Y.4
  • 18
    • 0141633913 scopus 로고    scopus 로고
    • Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene
    • Sawai H, Kanazawa N, Tsukahara Y, et al. 2003. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene. Prenat Diagn 23(9): 743-746.
    • (2003) Prenat Diagn , vol.23 , Issue.9 , pp. 743-746
    • Sawai, H.1    Kanazawa, N.2    Tsukahara, Y.3
  • 19
    • 0035888203 scopus 로고    scopus 로고
    • Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene
    • Sergi C, Mornet E, Troeger J, Voigtlaender T. 2001. Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Am J Med Genet 103(3): 235-240.
    • (2001) Am J Med Genet , vol.103 , Issue.3 , pp. 235-240
    • Sergi, C.1    Mornet, E.2    Troeger, J.3    Voigtlaender, T.4
  • 20
    • 0026053143 scopus 로고
    • Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings
    • Shohat M, Rimoin DL, Gruber HE, Lachman RS. 1991. Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol 21(6): 421-427.
    • (1991) Pediatr Radiol , vol.21 , Issue.6 , pp. 421-427
    • Shohat, M.1    Rimoin, D.L.2    Gruber, H.E.3    Lachman, R.S.4
  • 21
    • 0036378263 scopus 로고    scopus 로고
    • Hypophosphatasia associated with increased nuchal translucency: A report of two affected pregnancies
    • Souka AP, Raymond FL, Mornet E, Geerts L, Nicolaides KH. 2002. Hypophosphatasia associated with increased nuchal translucency: a report of two affected pregnancies. Ultrasound Obstet Gynecol 20(3): 294-295.
    • (2002) Ultrasound Obstet Gynecol , vol.20 , Issue.3 , pp. 294-295
    • Souka, A.P.1    Raymond, F.L.2    Mornet, E.3    Geerts, L.4    Nicolaides, K.H.5
  • 22
    • 17144444743 scopus 로고    scopus 로고
    • Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
    • Spentchian M, Merrien Y, Herasse M, et al. 2003. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. Hum Mutat 22(1): 105-106.
    • (2003) Hum Mutat , vol.22 , Issue.1 , pp. 105-106
    • Spentchian, M.1    Merrien, Y.2    Herasse, M.3
  • 23
    • 0034538850 scopus 로고    scopus 로고
    • Early prenatal sonographic diagnosis of congenital hypophosphatasia
    • Tongsong T, Pongsatha S. 2000. Early prenatal sonographic diagnosis of congenital hypophosphatasia. Ultrasound Obstet Gynecol 15(3): 252-255.
    • (2000) Ultrasound Obstet Gynecol , vol.15 , Issue.3 , pp. 252-255
    • Tongsong, T.1    Pongsatha, S.2
  • 24
    • 0032539523 scopus 로고    scopus 로고
    • Antenatal diagnosis of lethal skeletal dysplasias
    • Tretter AE, Saunders RC, Meyers CM, et al. 1998. Antenatal diagnosis of lethal skeletal dysplasias. Am J Med Genet 75(5): 518-522.
    • (1998) Am J Med Genet , vol.75 , Issue.5 , pp. 518-522
    • Tretter, A.E.1    Saunders, R.C.2    Meyers, C.M.3
  • 25
    • 0031754867 scopus 로고    scopus 로고
    • Lethal hypophosphatasia, spur type: Case report and fetopathological study
    • Vandevijver N, De Die-Smulders CE, Offermans JP, et al. 1998. Lethal hypophosphatasia, spur type: case report and fetopathological study. Genet Couns 9(3): 205-209.
    • (1998) Genet Couns , vol.9 , Issue.3 , pp. 205-209
    • Vandevijver, N.1    De Die-Smulders, C.E.2    Offermans, J.P.3
  • 26
    • 0018524952 scopus 로고
    • Hypophosphatasia: Biochemical diagnosis in postmortem organs, plasma and diploid skin fibroblasts
    • Vanneuville FJ, Leroy JG. 1979. Hypophosphatasia: biochemical diagnosis in postmortem organs, plasma and diploid skin fibroblasts. Arch Int Physiol Biochim 87: 854-855.
    • (1979) Arch Int Physiol Biochim , vol.87 , pp. 854-855
    • Vanneuville, F.J.1    Leroy, J.G.2
  • 27
    • 0022345468 scopus 로고
    • First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase
    • Warren RC, McKenzie CF, Rodeck CH, Moscoso G, Brock DJH, Barron L. 1985. First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase. Lancet II: 856-858.
    • (1985) Lancet , vol.2 , pp. 856-858
    • Warren, R.C.1    McKenzie, C.F.2    Rodeck, C.H.3    Moscoso, G.4    Brock, D.J.H.5    Barron, L.6
  • 28
    • 4043119022 scopus 로고    scopus 로고
    • Positive maternal serum triple test screening in severe early onset hypophosphatasia
    • Witters I, Moerman P, Mornet E, Fryns JP. 2004. Positive maternal serum triple test screening in severe early onset hypophosphatasia. Prenat Diagn 24(7): 494-497.
    • (2004) Prenat Diagn , vol.24 , Issue.7 , pp. 494-497
    • Witters, I.1    Moerman, P.2    Mornet, E.3    Fryns, J.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.