메뉴 건너뛰기




Volumn 7, Issue 1, 1998, Pages 10-22

Thanatophoric dysplasia type II: A new entity?

Author keywords

Cloverleaf skull; Fetal pathology; Lethal skeletal dysplasia; Thanatophoric dwarfism; Tissue mosaicism

Indexed keywords

ARTICLE; AUTOPSY; BONE RADIOGRAPHY; CARTILAGE CELL; CASE REPORT; CONTROLLED STUDY; ELECTRON MICROSCOPY; HISTOLOGY; HUMAN; HUMAN TISSUE; METAPHYSIS; NEWBORN; PRIORITY JOURNAL; SKULL MALFORMATION; THANATOPHORIC DWARFISM; THANATOPHORIC DWARFISM TYPE II;

EID: 0031910436     PISSN: 1060152X     EISSN: None     Source Type: Journal    
DOI: 10.1097/01202412-199801000-00002     Document Type: Article
Times cited : (6)

References (55)
  • 1
    • 13144270622 scopus 로고
    • The ultrastructure of elastic and hyaline cartilage of the rat
    • Anderson DR. The ultrastructure of elastic and hyaline cartilage of the rat. Am J Anat 1964;114:403-34.
    • (1964) Am J Anat , vol.114 , pp. 403-434
    • Anderson, D.R.1
  • 2
  • 4
    • 0014703191 scopus 로고
    • Fine structure and histochemistry of "calcifying globules" in epiphyseal cartilage
    • Bonucci E. Fine structure and histochemistry of "calcifying globules" in epiphyseal cartilage. Z Zellfórsch 1970;103:192-217.
    • (1970) Z Zellfórsch , vol.103 , pp. 192-217
    • Bonucci, E.1
  • 5
    • 0015455786 scopus 로고
    • The cloverleaf skull syndrome. Histological, histochemical, and ultrastructural findings
    • Bonucci E, Nardi F. The cloverleaf skull syndrome. Histological, histochemical, and ultrastructural findings. Virchom Arch 1972; 357:199-212.
    • (1972) Virchom Arch , vol.357 , pp. 199-212
    • Bonucci, E.1    Nardi, F.2
  • 6
    • 0016278612 scopus 로고
    • Etude génétique du nanisme thanatophore
    • Bouvet JP, Maroteaux P, Feingold J. Etude génétique du nanisme thanatophore. Ann Genet 1974;17:181-8.
    • (1974) Ann Genet , vol.17 , pp. 181-188
    • Bouvet, J.P.1    Maroteaux, P.2    Feingold, J.3
  • 7
    • 0018028471 scopus 로고
    • Structure and function of the growth plate
    • Brighton CT. Structure and function of the growth plate. Clin Orthop 1978;136:22-32.
    • (1978) Clin Orthop , vol.136 , pp. 22-32
    • Brighton, C.T.1
  • 8
    • 0015828705 scopus 로고
    • Cytoplasmic structures of epiphyseal plate chondrocytes
    • Brighton CT, Sugioka Y, Hunt RM. Cytoplasmic structures of epiphyseal plate chondrocytes. J Bone Joint Surg Am 1973;55: 771-84.
    • (1973) J Bone Joint Surg Am , vol.55 , pp. 771-784
    • Brighton, C.T.1    Sugioka, Y.2    Hunt, R.M.3
  • 9
    • 0015241203 scopus 로고
    • Familial thanatophoric dwarfism
    • Chemke J, Graff G, Lancet M. Familial thanatophoric dwarfism. Lancet 1971;1:1358.
    • (1971) Lancet , vol.1 , pp. 1358
    • Chemke, J.1    Graff, G.2    Lancet, M.3
  • 10
    • 0016722568 scopus 로고
    • An etiologic and nosologic overview of craniosynostosis syndrome
    • Cohen MM. An etiologic and nosologic overview of craniosynostosis syndrome. Birth Defects 1975;11:137-89.
    • (1975) Birth Defects , vol.11 , pp. 137-189
    • Cohen, M.M.1
  • 11
    • 68249101540 scopus 로고
    • The cloverleaf skull malformation
    • Bosma JF, ed. Bethesda: U.S. Dept Education and Welfare (Publication No. NIH 76-989)
    • Cohen MM. The cloverleaf skull malformation. In: Bosma JF, ed. Development of the basicranium. Bethesda: U.S. Dept Education and Welfare (Publication No. NIH 76-989), 1976:373-82.
    • (1976) Development of the Basicranium , pp. 373-382
    • Cohen, M.M.1
  • 12
    • 0018577709 scopus 로고
    • Craniosynostosis and syndromes with craniosynostosis: Incidence, genetics, penetrance, variability, and new syndrome updating
    • Cohen MM. Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects 1979;15(5B):13-63.
    • (1979) Birth Defects , vol.15 , Issue.5 B , pp. 13-63
    • Cohen, M.M.1
  • 14
    • 0344487278 scopus 로고
    • The Kleeblattschädelsyndrome: A grotesque form of hydrocephalus
    • Comings DE. The Kleeblattschädelsyndrome: a grotesque form of hydrocephalus. J Pediatr 1965;67:126-9.
    • (1965) J Pediatr , vol.67 , pp. 126-129
    • Comings, D.E.1
  • 15
    • 0026569292 scopus 로고
    • Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical, and pathological findings
    • Corsello G, Maresi E, Rossi G, Giuffre L, Cittadini E. Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical, and pathological findings. Am J Med Genet 1992;42:122-6.
    • (1992) Am J Med Genet , vol.42 , pp. 122-126
    • Corsello, G.1    Maresi, E.2    Rossi, G.3    Giuffre, L.4    Cittadini, E.5
  • 16
    • 0022841973 scopus 로고
    • Are the clover-shaped skull syndrome and thanatophoric dysplasia the same disease entity?
    • Domanski J, Huzior-Balajewicz A, Puczynski J. Are the clover-shaped skull syndrome and thanatophoric dysplasia the same disease entity? Przegl Lek 1986;43:729-33.
    • (1986) Przegl Lek , vol.43 , pp. 729-733
    • Domanski, J.1    Huzior-Balajewicz, A.2    Puczynski, J.3
  • 17
    • 0015179120 scopus 로고
    • Organization of extracellular matrix in epiphyseal growth plate
    • Eisenstein R, Sorgente N, Kuettner KE. Organization of extracellular matrix in epiphyseal growth plate. Am J Pathol 1971;65:515-28.
    • (1971) Am J Pathol , vol.65 , pp. 515-528
    • Eisenstein, R.1    Sorgente, N.2    Kuettner, K.E.3
  • 19
    • 13144270820 scopus 로고
    • Relation of the changes in the brain to those in the skull of Crouzon's and similar diseases, with report of a case
    • Esbaugh D. Relation of the changes in the brain to those in the skull of Crouzon's and similar diseases, with report of a case. J Neuropathol Exp Neurol 1948;7:328-43.
    • (1948) J Neuropathol Exp Neurol , vol.7 , pp. 328-343
    • Esbaugh, D.1
  • 20
    • 0028572508 scopus 로고
    • Genetic mosaicism in the house mouse
    • Favor J, Neuhäuser-Klaus A. Genetic mosaicism in the house mouse. Ann Rev Genet 1994;28:27-47.
    • (1994) Ann Rev Genet , vol.28 , pp. 27-47
    • Favor, J.1    Neuhäuser-Klaus, A.2
  • 21
    • 0023016259 scopus 로고
    • Thanatophorer Zwergwuchs
    • Frahm R. Thanatophorer Zwergwuchs. Radiologe 1986;26:598-601.
    • (1986) Radiologe , vol.26 , pp. 598-601
    • Frahm, R.1
  • 23
    • 0015994286 scopus 로고
    • Unexplained hydramnios associated with a thanatophoric dwarf
    • Goodlin RC, Lowe EW. Unexplained hydramnios associated with a thanatophoric dwarf. Am J Obstet Gynecol 1974;118:873-5.
    • (1974) Am J Obstet Gynecol , vol.118 , pp. 873-875
    • Goodlin, R.C.1    Lowe, E.W.2
  • 24
    • 0016641241 scopus 로고
    • Studies of malformation syndromes in man. XXXVI. The Pfeiffer syndrome: Association with Kleeblattschädel and multiple visceral anomalies
    • Hodach RJ, Viseskul C, Gilbert EF, Herrman JPR, Wolfson JJ, Kavegia EG, Opitz JM. Studies of malformation syndromes in man. XXXVI. The Pfeiffer syndrome: association with Kleeblattschädel and multiple visceral anomalies. Z Kinderheilkd 1975; 119:87-103.
    • (1975) Z Kinderheilkd , vol.119 , pp. 87-103
    • Hodach, R.J.1    Viseskul, C.2    Gilbert, E.F.3    Herrman, J.P.R.4    Wolfson, J.J.5    Kavegia, E.G.6    Opitz, J.M.7
  • 26
    • 13144280553 scopus 로고
    • Oscillations of chondrogenic phenotype in vitro
    • Ursprung H, ed. New York: Academic Press
    • Holtzer H, Abbot J. Oscillations of chondrogenic phenotype in vitro. In: Ursprung H, ed. The stability of the differentiated state. New York: Academic Press, 1968:1-23.
    • (1968) The Stability of the Differentiated State , pp. 1-23
    • Holtzer, H.1    Abbot, J.2
  • 27
    • 0020645412 scopus 로고
    • Discordance for the Kleebattschädel anomaly in monozygotic twins with thanatophoric dysplasia
    • Horton WA, Harris DJ, Collins DL. Discordance for the Kleebattschädel anomaly in monozygotic twins with thanatophoric dysplasia. Am J Med Genet 1983;15:97-101.
    • (1983) Am J Med Genet , vol.15 , pp. 97-101
    • Horton, W.A.1    Harris, D.J.2    Collins, D.L.3
  • 28
    • 0018403960 scopus 로고
    • Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types
    • Horton WA, Rimoin DL, Lachman RS. Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. J Pediatr 1979;94:736-42.
    • (1979) J Pediatr , vol.94 , pp. 736-742
    • Horton, W.A.1    Rimoin, D.L.2    Lachman, R.S.3
  • 29
    • 0018236405 scopus 로고
    • Ultrastructure of human foetal neonatal hyaline cartilage
    • Hwang WS. Ultrastructure of human foetal neonatal hyaline cartilage. J Pathol 1978;126:209-14.
    • (1978) J Pathol , vol.126 , pp. 209-214
    • Hwang, W.S.1
  • 31
    • 0002711242 scopus 로고
    • Mosaicism confined to chorionic tissue in human gestations
    • Fraccaro, ed. Berlin, Heidelberg: Springer
    • Kalousek DK. Mosaicism confined to chorionic tissue in human gestations. In: Fraccaro, ed. First trimester fetal diagnosis. Berlin, Heidelberg: Springer, 1985:130-6.
    • (1985) First Trimester Fetal Diagnosis , pp. 130-136
    • Kalousek, D.K.1
  • 32
    • 0020064780 scopus 로고
    • The cloverleaf skull anomaly: An anatomic and histologic study of two specimens
    • Kokich VG, Moffett BC, Cohen MM. The cloverleaf skull anomaly: an anatomic and histologic study of two specimens. Cleft Palate Craniofac J 1982;19:89-99.
    • (1982) Cleft Palate Craniofac J , vol.19 , pp. 89-99
    • Kokich, V.G.1    Moffett, B.C.2    Cohen, M.M.3
  • 33
    • 0021817085 scopus 로고
    • Cloverleaf skull with generalised bone dysplasia: Report of a case with short review of the literature
    • Kozlowski K, Warren PS, Fisher CC. Cloverleaf skull with generalised bone dysplasia: report of a case with short review of the literature. Pediatr Radiol 1985;15:412-14.
    • (1985) Pediatr Radiol , vol.15 , pp. 412-414
    • Kozlowski, K.1    Warren, P.S.2    Fisher, C.C.3
  • 35
    • 0000262192 scopus 로고
    • The pathogenesis of premature cranial synostosis in man
    • Moss ML. The pathogenesis of premature cranial synostosis in man. Acta Anat 1959;73:351-70.
    • (1959) Acta Anat , vol.73 , pp. 351-370
    • Moss, M.L.1
  • 36
    • 0016762028 scopus 로고
    • Functional anatomy of cranial synostosis
    • Moss ML. Functional anatomy of cranial synostosis. Child Brain 1975;1:22-33.
    • (1975) Child Brain , vol.1 , pp. 22-33
    • Moss, M.L.1
  • 37
    • 0026475266 scopus 로고
    • Hereditary conditions in which the loss of heterozygosity may be important
    • Müller HJ, Scott R. Hereditary conditions in which the loss of heterozygosity may be important. Mutat Res 1992;284:15-24.
    • (1992) Mutat Res , vol.284 , pp. 15-24
    • Müller, H.J.1    Scott, R.2
  • 38
    • 0026849221 scopus 로고
    • Thanatophoric dysplasia of the straight-bone type (Type 2)
    • Norman A, Rimmer S, Landy S, Donnai D. Thanatophoric dysplasia of the straight-bone type (Type 2). Clin Dysmorphol 1992; 2:115-20.
    • (1992) Clin Dysmorphol , vol.2 , pp. 115-120
    • Norman, A.1    Rimmer, S.2    Landy, S.3    Donnai, D.4
  • 39
    • 0000639930 scopus 로고
    • Acrocephaly and scaphocephaly with symmetrically distributed malformations of the extremities
    • Park EA, Powers GF. Acrocephaly and scaphocephaly with symmetrically distributed malformations of the extremities. Am J Dis Child 1920;20:235-315.
    • (1920) Am J Dis Child , vol.20 , pp. 235-315
    • Park, E.A.1    Powers, G.F.2
  • 40
    • 0015133185 scopus 로고
    • Cloverleaf skull and thanatophoric dwarfism: Report on four cases, two in the same sibship
    • Partington MW, Gonzales-Crussi F, Khakee SG, Wollin DG. Cloverleaf skull and thanatophoric dwarfism: report on four cases, two in the same sibship. Arch Dis Child 1971;64:656-64.
    • (1971) Arch Dis Child , vol.64 , pp. 656-664
    • Partington, M.W.1    Gonzales-Crussi, F.2    Khakee, S.G.3    Wollin, D.G.4
  • 42
    • 0019880060 scopus 로고
    • Prenatal trisomy 20 mosaicism: Origin in fetal kidney cell?
    • Schwinger E, Rehder H. Prenatal trisomy 20 mosaicism: origin in fetal kidney cell? Lancet 1981;2:1111.
    • (1981) Lancet , vol.2 , pp. 1111
    • Schwinger, E.1    Rehder, H.2
  • 45
    • 0014400217 scopus 로고
    • Cellular differentiation and the aging process in cartilagenous tissues: Mucopolysaccharide synthesis in cell cultures in chondrocytes
    • Shulman HJ, Meyer K. Cellular differentiation and the aging process in cartilagenous tissues: mucopolysaccharide synthesis in cell cultures in chondrocytes. J Exp Med 1968;128:1353-62.
    • (1968) J Exp Med , vol.128 , pp. 1353-1362
    • Shulman, H.J.1    Meyer, K.2
  • 47
    • 0028860562 scopus 로고
    • Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
    • Tavormina PL, Rimoin DL, Cohn DH, Zhu YZ, Shiang R, Wasmuth JJ. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet 1995;4:2175-7.
    • (1995) Hum Mol Genet , vol.4 , pp. 2175-2177
    • Tavormina, P.L.1    Rimoin, D.L.2    Cohn, D.H.3    Zhu, Y.Z.4    Shiang, R.5    Wasmuth, J.J.6
  • 48
    • 0026787109 scopus 로고
    • Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: Possible involvement of an unstable premutation
    • Traupe H, Muller D, Atherton D, Kalter DC, Cremers FP, van Oost BA, Ropers HH. Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable premutation. Hum Genet 1992;89:659-65.
    • (1992) Hum Genet , vol.89 , pp. 659-665
    • Traupe, H.1    Muller, D.2    Atherton, D.3    Kalter, D.C.4    Cremers, F.P.5    Van Oost, B.A.6    Ropers, H.H.7
  • 49
    • 0027976079 scopus 로고
    • Unstable pre-mutation may explain mosaic disease expression of incontinentia piugmenti in males
    • Traupe H, Vehring KH. Unstable pre-mutation may explain mosaic disease expression of incontinentia piugmenti in males. Am J Med Genet 1994;49:397-8.
    • (1994) Am J Med Genet , vol.49 , pp. 397-398
    • Traupe, H.1    Vehring, K.H.2
  • 50
    • 0000804788 scopus 로고
    • Über den Cretinismus, namentlich in Franken, und über pathologische Schädelformen
    • Virchow R. Über den Cretinismus, namentlich in Franken, und über pathologische Schädelformen. Verh Phys Med Ges Würzburg 1851;2:230-71.
    • (1851) Verh Phys Med Ges Würzburg , vol.2 , pp. 230-271
    • Virchow, R.1
  • 52
    • 13144270900 scopus 로고
    • Thanatophoric dysplasia with cloverleaf skull (Type II). A new entity?
    • Weber M, Rehder H. Thanatophoric dysplasia with cloverleaf skull (Type II). A new entity? Am J Hum Genet 1991;49(Suppl):171.
    • (1991) Am J Hum Genet , vol.49 , Issue.SUPPL. , pp. 171
    • Weber, M.1    Rehder, H.2
  • 53
    • 0028877370 scopus 로고
    • Eine neue Stanzentechnik am Knorpel-Knochengewebe für morphologische Untersuchungen in der Orthopädie
    • Weber M, Johannisson R, Rehder H, Graf J. Eine neue Stanzentechnik am Knorpel-Knochengewebe für morphologische Untersuchungen in der Orthopädie. Z Orthop 1995;133:405-10.
    • (1995) Z Orthop , vol.133 , pp. 405-410
    • Weber, M.1    Johannisson, R.2    Rehder, H.3    Graf, J.4
  • 54
    • 0031933363 scopus 로고    scopus 로고
    • Thanatophoric dysplasia Type I: New radiologic, morphologic, and histologic aspects towards the exact definition of the disorder
    • Weber M, Johannisson R, Thomsen M, Rehder H, Niethard FU. Thanatophoric dysplasia Type I: new radiologic, morphologic, and histologic aspects towards the exact definition of the disorder. J Pediatr Orthop Part B 1998;7:1-9.
    • (1998) J Pediatr Orthop Part B , vol.7 , pp. 1-9
    • Weber, M.1    Johannisson, R.2    Thomsen, M.3    Rehder, H.4    Niethard, F.U.5
  • 55
    • 0015115066 scopus 로고
    • Histochemical evidence of a functional heterogeneity in neonatal canine epiphyseal chondrocytes
    • Wilsman NF, van Sickle DC. Histochemical evidence of a functional heterogeneity in neonatal canine epiphyseal chondrocytes. Histochem J 1971;3:311-18.
    • (1971) Histochem J , vol.3 , pp. 311-318
    • Wilsman, N.F.1    Van Sickle, D.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.