메뉴 건너뛰기




Volumn 158, Issue 10, 1999, Pages 809-814

Spondylo-epimetaphyseal dysplasia: A new X-linked variant with mental retardation

Author keywords

Mental retardation; Spondylo epimetaphyseal dysplasia; X linked inheritance

Indexed keywords

ARTICLE; BONE RADIOGRAPHY; BRACHYDACTYLY; CASE REPORT; DIFFERENTIAL DIAGNOSIS; HUMAN; MALE; MENTAL DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SKELETON MALFORMATION; SPONDYLOEPIPHYSEAL DYSPLASIA; X CHROMOSOME;

EID: 0032866564     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310051211     Document Type: Article
Times cited : (12)

References (15)
  • 1
    • 0029998680 scopus 로고    scopus 로고
    • Mental retardation, short stature, and skeletal dysplasia: Confirmation of the Gurrieri syndrome
    • Battaglia A, Orsitto E, Gibilisco G (1996) Mental retardation, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome. Am J Med Genet 62:230-232
    • (1996) Am J Med Genet , vol.62 , pp. 230-232
    • Battaglia, A.1    Orsitto, E.2    Gibilisco, G.3
  • 2
    • 0018971248 scopus 로고
    • Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis
    • Beighton P, Kozlowski K (1980) Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiol 5:205-212
    • (1980) Skeletal Radiol , vol.5 , pp. 205-212
    • Beighton, P.1    Kozlowski, K.2
  • 3
    • 0028917831 scopus 로고
    • CODAS syndrome: A new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia
    • Cabral de Almeida JC, Vargas FR, Barbosa-Neto JG, Llierena JC Jr (1995) CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Am J Med Genet 55:19-20
    • (1995) Am J Med Genet , vol.55 , pp. 19-20
    • Cabral de Almeida, J.C.1    Vargas, F.R.2    Barbosa-Neto, J.G.3    Llierena J.C., Jr.4
  • 4
    • 0028365447 scopus 로고
    • New X linked spondyloepimetaphyseal dysplasia: Report on eight affected males in the same family
    • Camera G, Stella G, Camera A (1994) New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. J Med Genet 31:371-376
    • (1994) J Med Genet , vol.31 , pp. 371-376
    • Camera, G.1    Stella, G.2    Camera, A.3
  • 5
    • 0030022507 scopus 로고    scopus 로고
    • Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay
    • Chitty LS, Hall CM, Baraitser M (1996) Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay. Clin Dysmorph 5:17-25
    • (1996) Clin Dysmorph , vol.5 , pp. 17-25
    • Chitty, L.S.1    Hall, C.M.2    Baraitser, M.3
  • 6
    • 0026662917 scopus 로고
    • New autosomal recessive syndrome of mental retardation, epilepsy, short stature and skeletal dysplasia
    • Gurrieri F, Sammito V, Bellussi A, Neri G (1992) New autosomal recessive syndrome of mental retardation, epilepsy, short stature and skeletal dysplasia. Am J Med Genet 44:315-320
    • (1992) Am J Med Genet , vol.44 , pp. 315-320
    • Gurrieri, F.1    Sammito, V.2    Bellussi, A.3    Neri, G.4
  • 7
    • 0031055673 scopus 로고    scopus 로고
    • Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed
    • Khan KTS, Uma R, Usha R, Al Ghanem MM, Al Awadi SA, Farag TI (1997) Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. Am J Med Genet 69:126-132
    • (1997) Am J Med Genet , vol.69 , pp. 126-132
    • Khan, K.T.S.1    Uma, R.2    Usha, R.3    Al Ghanem, M.M.4    Al Awadi, S.A.5    Farag, T.I.6
  • 8
    • 0032574662 scopus 로고    scopus 로고
    • Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration
    • Khosravi M, Weaver DD, Bull MJ, Lachman R, Rimoin DL (1998) Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration. Am J Med Genet 77:63-71
    • (1998) Am J Med Genet , vol.77 , pp. 63-71
    • Khosravi, M.1    Weaver, D.D.2    Bull, M.J.3    Lachman, R.4    Rimoin, D.L.5
  • 9
    • 0023220355 scopus 로고
    • Spondyloepiphyseal dysplasia tarda: A new autosomal recessive variant with mental retardation
    • Kohn G, Elrayyes ER, Makadmah I, Rosler A, Grunebaum M (1987) Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation. J Med Genet 24:366-377
    • (1987) J Med Genet , vol.24 , pp. 366-377
    • Kohn, G.1    Elrayyes, E.R.2    Makadmah, I.3    Rosler, A.4    Grunebaum, M.5
  • 10
    • 0027519401 scopus 로고
    • Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies
    • Kozlowski K, Sillence D, Taylor F (1993) Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. Pediatr Radiol 23:442-445
    • (1993) Pediatr Radiol , vol.23 , pp. 442-445
    • Kozlowski, K.1    Sillence, D.2    Taylor, F.3
  • 11
    • 0022539960 scopus 로고
    • Syndrome of short stature, microcephaly, mental retardation and multiple epiphyseal dysplasia-Lowry-Wood syndrome
    • Nevin NC, Thomas PS, Hutchinson J (1986) Syndrome of short stature, microcephaly, mental retardation and multiple epiphyseal dysplasia-Lowry-Wood syndrome. Am J Med Genet 24:33-39
    • (1986) Am J Med Genet , vol.24 , pp. 33-39
    • Nevin, N.C.1    Thomas, P.S.2    Hutchinson, J.3
  • 12
    • 0029782239 scopus 로고    scopus 로고
    • Mental retardation, megaepiphyses, ulnar pseudoepiphyses, hypoplastic fibulae, brachymesophalangia: A new syndrome
    • Nishimura G, Kozlowski K, Tachibana K, Kameshita K, Ohba S (1996) Mental retardation, megaepiphyses, ulnar pseudoepiphyses, hypoplastic fibulae, brachymesophalangia: a new syndrome. Pediatr Radiol 26:556-558
    • (1996) Pediatr Radiol , vol.26 , pp. 556-558
    • Nishimura, G.1    Kozlowski, K.2    Tachibana, K.3    Kameshita, K.4    Ohba, S.5
  • 13
    • 0032574638 scopus 로고    scopus 로고
    • Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and mental retardation: Report of four sibs
    • Nishimura G, Fukushima Y, Aihara T, Ohashi H, Nishimoto H, Nishimura J (1998) Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and mental retardation: report of four sibs. Am J Med Genet 77:1-7
    • (1998) Am J Med Genet , vol.77 , pp. 1-7
    • Nishimura, G.1    Fukushima, Y.2    Aihara, T.3    Ohashi, H.4    Nishimoto, H.5    Nishimura, J.6
  • 15
    • 0018946456 scopus 로고
    • X-linked Dyggve-Melchior-Clausen syndrome
    • Yunis E, Fontalvo J, Quintero L (1980) X-linked Dyggve-Melchior-Clausen syndrome. Clin Genet 18:284-290
    • (1980) Clin Genet , vol.18 , pp. 284-290
    • Yunis, E.1    Fontalvo, J.2    Quintero, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.