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Volumn 20, Issue SUPPL. 1, 2009, Pages 652-656

Cloverleaf skulls: Etiologic heterogeneity and pathogenetic variability

Author keywords

Amniotic bands; Apert syndrome; Etiology; FGFR mutations; Kleeblattsch del; Pathogenesis; Trilobular skull; Type 2 Pfeiffer syndrome; Type 2 thanatophoric dysplasia

Indexed keywords

ACROCEPHALOPOLYSYNDACTYLY TYPE 2; ACROCEPHALOSYNDACTYLY; AMNION BAND SYNDROME; ARTICLE; BEARE STEVENSON CUTIS GYRATE SYNDROME; BOSTON TYPE CRANIOSYNOSTOSIS; BRAIN RADIOGRAPHY; CAMPTOMELIC DYSPLASIA; CENTRAL NERVOUS SYSTEM MALFORMATION; CHROMOSOME ABERRATION; CLOVERLEAF SKULL; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; CUMMING SYNDROME; DISEASE SEVERITY; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HYDROCEPHALUS; LOSCHGE SYNDROME; MUENKE SYNDROME; OSTEOGLYPHONIC DYSPLASIA; PATHOGENESIS; PRIORITY JOURNAL; SAY POZNANSKI SYNDROME; SHPRINTZEN GOLDBERG SYNDROME; THANATOPHORIC DWARFISM;

EID: 68249087222     PISSN: 10492275     EISSN: None     Source Type: Journal    
DOI: 10.1097/SCS.0b013e318193d4f7     Document Type: Article
Times cited : (16)

References (35)
  • 2
    • 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, et al. 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
  • 3
    • 0018499423 scopus 로고    scopus 로고
    • Aksu F, Mietens C. Kleeblattschädel-Syndrom. Klin Pädiat 1979;191:418-428
    • Aksu F, Mietens C. Kleeblattschädel-Syndrom. Klin Pädiat 1979;191:418-428
  • 4
    • 0015466626 scopus 로고
    • The Kleblattschädel phenomenon - sign or syndrome?
    • Cohen MM Jr. The Kleblattschädel phenomenon - sign or syndrome? Am J Dis Child 1972;124:944
    • (1972) Am J Dis Child , vol.124 , pp. 944
    • Cohen Jr., M.M.1
  • 5
    • 0016722568 scopus 로고
    • An etiologic and nosologic overviewof craniosynostosis syndromes
    • Cohen MM Jr. An etiologic and nosologic overviewof craniosynostosis syndromes. Birth Defects 1975;11:137-189
    • (1975) Birth Defects , vol.11 , pp. 137-189
    • Cohen Jr., M.M.1
  • 7
    • 0018577709 scopus 로고
    • Craniosynostosis and syndromes with craniosynostosis
    • Cohen MM Jr. Craniosynostosis and syndromes with craniosynostosis. Birth Defects 1979;15:13-63
    • (1979) Birth Defects , vol.15 , pp. 13-63
    • Cohen Jr., M.M.1
  • 9
    • 0024259069 scopus 로고
    • Craniosynostosis update:1986-1987
    • Cohen MM Jr. Craniosynostosis update:1986-1987. Am J Med Genet Suppl 1988;4:99-148
    • (1988) Am J Med Genet Suppl , vol.4 , pp. 99-148
    • Cohen Jr., M.M.1
  • 10
    • 0027533792 scopus 로고
    • Discussion: The cloverleaf skull anomaly: Managing extreme Cranio-orbitofaciostenosis
    • Cohen MM Jr. Discussion: The cloverleaf skull anomaly: Managing extreme Cranio-orbitofaciostenosis. Plast Reconstr Surg 1993;91:10-14
    • (1993) Plast Reconstr Surg , vol.91 , pp. 10-14
    • Cohen Jr., M.M.1
  • 11
    • 0027476349 scopus 로고
    • Pfeiffer syndrome update: Clinical subtypes and guidelines for differential diagnosis
    • Cohen MM Jr. Pfeiffer syndrome update: Clinical subtypes and guidelines for differential diagnosis. Am J Med Genet 1993;45:300-307
    • (1993) Am J Med Genet , vol.45 , pp. 300-307
    • Cohen Jr., M.M.1
  • 13
    • 14044258885 scopus 로고    scopus 로고
    • FGFs/FGFRs and associated disorders
    • Epstein CJ, Erickson RP, Wynshaw-Boris A, eds, New York: Oxford University Press
    • Cohen MM Jr. FGFs/FGFRs and associated disorders. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, eds. Inborn Errors of Development New York: Oxford University Press, 2004:380-400
    • (2004) Inborn Errors of Development , pp. 380-400
    • Cohen Jr, M.M.1
  • 14
    • 0020064780 scopus 로고
    • The cloverleaf skull anomaly: An anatomic and histologic study of two specimens
    • Kokich VG, Moffett BC, Cohen MM Jr. The cloverleaf skull anomaly: An anatomic and histologic study of two specimens. Cleft Palate J 1982;19:89-99
    • (1982) Cleft Palate J , vol.19 , pp. 89-99
    • Kokich, V.G.1    Moffett, B.C.2    Cohen Jr., M.M.3
  • 15
    • 0014114634 scopus 로고
    • Cloverleaf skull: Kleblattschädel- deformity syndrome.
    • Angle CR, McIntire MS, Moore RL. Cloverleaf skull: Kleblattschädel- deformity syndrome. Am J Dis Child 1967;114:198-202
    • (1967) Am J Dis Child , vol.114 , pp. 198-202
    • Angle, C.R.1    McIntire, M.S.2    Moore, R.L.3
  • 16
    • 0344487278 scopus 로고
    • The Kleeblattschädel syndrome-grotesque form of hydrocephalus
    • Comings DE. The Kleeblattschädel syndrome-grotesque form of hydrocephalus. J Pediatr 1965;67:126-129
    • (1965) J Pediatr , vol.67 , pp. 126-129
    • Comings, D.E.1
  • 17
    • 0344487279 scopus 로고
    • Über einen akrocephalen Reliefschädel. Ein Beitrag zur Frage der partiellen Chondrodystrophie.
    • Gruber GB. Über einen akrocephalen Reliefschädel. Ein Beitrag zur Frage der partiellen Chondrodystrophie. Beitr Path Anat Allg Path 1936;97:9
    • (1936) Beitr Path Anat Allg Path , vol.97 , pp. 9
    • Gruber, G.B.1
  • 18
    • 68249125606 scopus 로고
    • Kleblatt Schädel-Syndrom, als Beitrag zur formalin Genese der Entwicklungsstörung des Schädeldaches.
    • Liebaldt G. "Kleblatt" Schädel-Syndrom, als Beitrag zur formalin Genese der Entwicklungsstörung des Schädeldaches. Ergeb Allg Pathol 1964;45:23-38
    • (1964) Ergeb Allg Pathol , vol.45 , pp. 23-38
    • Liebaldt, G.1
  • 19
    • 0023389349 scopus 로고
    • Cloverleaf skull and bone dysplasias (report of four cases)
    • Kozlowski K, Jequier S, Sillence D et al. Cloverleaf skull and bone dysplasias (report of four cases). Australas Radiol 1987;31:309-314
    • (1987) Australas Radiol , vol.31 , pp. 309-314
    • Kozlowski, K.1    Jequier, S.2    Sillence, D.3
  • 20
    • 0015102168 scopus 로고
    • Radiography of stillborn infants
    • Ryan J, Kozlowski K. Radiography of stillborn infants. Australas Radiol 1971;15:213-226
    • (1971) Australas Radiol , vol.15 , pp. 213-226
    • Ryan, J.1    Kozlowski, K.2
  • 22
    • 0015579220 scopus 로고
    • Thanatophoric dwarfism and cloverleaf skull ("Kleeblattschädel")
    • Young RW, Pochaczevsky R, Leonidas JC et al. Thanatophoric dwarfism and cloverleaf skull ("Kleeblattschädel"). Radiology 1973;106:401-409
    • (1973) Radiology , vol.106 , pp. 401-409
    • Young, R.W.1    Pochaczevsky, R.2    Leonidas, J.C.3
  • 23
    • 1642638330 scopus 로고
    • Zur Frage des Hydrocephalus chondrodystrophicus congenitus.
    • Welter H. Zur Frage des Hydrocephalus chondrodystrophicus congenitus. Beitr Path Anat Allg Path 1936;97:1-8
    • (1936) Beitr Path Anat Allg Path , vol.97 , pp. 1-8
    • Welter, H.1
  • 24
    • 0020529210 scopus 로고
    • Ventricular diverticles with localized dysgenesis of the temporal lobe in cloverleaf skull anomaly
    • Hori A, Friede RL, Fischer G. Ventricular diverticles with localized dysgenesis of the temporal lobe in cloverleaf skull anomaly. Acta Neuropath 1983;60:132-136
    • (1983) Acta Neuropath , vol.60 , pp. 132-136
    • Hori, A.1    Friede, R.L.2    Fischer, G.3
  • 25
    • 0023815087 scopus 로고    scopus 로고
    • Venes JL. Arnold Chiari malformation in an infant with Kleeblattschädel: An acquired malformation? Neurosurgery 1988;23:360-362
    • Venes JL. Arnold Chiari malformation in an infant with Kleeblattschädel: An acquired malformation? Neurosurgery 1988;23:360-362
  • 26
    • 0021241468 scopus 로고
    • Neuropathologic findings in thanatophoric dysplasia
    • Ho K-L, Chang C-H, Yang SS et al. Neuropathologic findings in thanatophoric dysplasia. Acta Neuropathol (Berl) 1984;63:218-228
    • (1984) Acta Neuropathol (Berl) , vol.63 , pp. 218-228
    • Ho, K.-L.1    Chang, C.-H.2    Yang, S.S.3
  • 27
    • 0024147307 scopus 로고
    • Temporal-lobe abnormalities in thanatophoric dysplasia
    • Kinsely AS, Ambler MW. Temporal-lobe abnormalities in thanatophoric dysplasia. Pediatr Neurosci 1988;14:169-176
    • (1988) Pediatr Neurosci , vol.14 , pp. 169-176
    • Kinsely, A.S.1    Ambler, M.W.2
  • 28
    • 0022338712 scopus 로고
    • Neuropathological and golgi study on a case of thanatophoric dysplasia
    • Shigematsu H, Takashima S, Otami K et al. Neuropathological and golgi study on a case of thanatophoric dysplasia. Brain Dev 1985;7:628-632
    • (1985) Brain Dev , vol.7 , pp. 628-632
    • Shigematsu, H.1    Takashima, S.2    Otami, K.3
  • 29
  • 30
    • 68249105242 scopus 로고    scopus 로고
    • Vrolik W. Tabulae ad illustrandam embryogenes in Hominis et Mammalium London: G.M.P., 1849
    • Vrolik W. Tabulae ad illustrandam embryogenes in Hominis et Mammalium London: G.M.P., 1849
  • 31
    • 0022399392 scopus 로고
    • Thanatophoric dysplasia: Fetal manifestations and prenatal diagnosis
    • Elejalde BR, de Elejalde MM. Thanatophoric dysplasia: Fetal manifestations and prenatal diagnosis. Am J Med Genet 1985;22:669-683
    • (1985) Am J Med Genet , vol.22 , pp. 669-683
    • Elejalde, B.R.1    de Elejalde, M.M.2
  • 32
    • 33544464057 scopus 로고
    • Studien über frühzeitige Schädel- difformitäten.
    • Fridolin J. Studien über frühzeitige Schädel- difformitäten. Virchows Path Anat Physiol 1885;100:266-273
    • (1885) Virchows Path Anat Physiol , vol.100 , pp. 266-273
    • Fridolin, J.1
  • 33
    • 0014984793 scopus 로고
    • Beitrag zum Kleeblattschädel-Syndrom.
    • Schuch A, Pesch HJ. Beitrag zum Kleeblattschädel-Syndrom. Z Kinderheilkd 1971;109:187-198
    • (1971) Z Kinderheilkd , vol.109 , pp. 187-198
    • Schuch, A.1    Pesch, H.J.2
  • 35
    • 0023137543 scopus 로고
    • Cloverleaf skull associated with unusual skeletal anomalies
    • Say B, Poznanski AK. Cloverleaf skull associated with unusual skeletal anomalies. Pediatr Radiol 1987;17:93-96
    • (1987) Pediatr Radiol , vol.17 , pp. 93-96
    • Say, B.1    Poznanski, A.K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.