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Volumn 69, Issue 4, 1997, Pages 388-394

Another "new" form, the palagonia type of acrofacial dysostosis in a sicilian family

Author keywords

Acrofacial dysostosis; Aplasia cutis verticis; Dominant inheritance; Oligodontia; Pili torti; Syndactyly

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLEFT LIP; CLINICAL FEATURE; FEMALE; HUMAN; MANDIBULOFACIAL DYSOSTOSIS; NEURAL TUBE DEFECT; OLIGODONTIA; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SYNDACTYLY; SYNDROME DELINEATION;

EID: 0030915283     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (7)
  • 2
    • 0023257883 scopus 로고
    • Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: Review of the conditions combining ectodermal dysplasia and cleft lip/ palate
    • Martinez BR, Monasterio LA, Pinheiro M, Freire-Maia N (1987): Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: Review of the conditions combining ectodermal dysplasia and cleft lip/ palate. Am J Med Genet 27:23-31.
    • (1987) Am J Med Genet , vol.27 , pp. 23-31
    • Martinez, B.R.1    Monasterio, L.A.2    Pinheiro, M.3    Freire-Maia, N.4
  • 3
    • 0028216025 scopus 로고
    • Postaxial acrofacial dysostosis syndrome with vertebral segmentation defects
    • Medeira A, Donnai D (1994): Postaxial acrofacial dysostosis syndrome with vertebral segmentation defects. Clinical Dysmorphol 3:171-174.
    • (1994) Clinical Dysmorphol , vol.3 , pp. 171-174
    • Medeira, A.1    Donnai, D.2
  • 4
    • 0028942927 scopus 로고
    • Acrofacial dysostosis of unknown type: Nosology of the acrofacial dysostoses
    • Preis S, Raymaekers-Buntinx I, Majewski F (1995): Acrofacial dysostosis of unknown type: Nosology of the acrofacial dysostoses. Am J Med Genet 56:155-160.
    • (1995) Am J Med Genet , vol.56 , pp. 155-160
    • Preis, S.1    Raymaekers-Buntinx, I.2    Majewski, F.3
  • 5
    • 0027452302 scopus 로고
    • Acrofacial dysostoses: Review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis
    • Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M (1993): Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet 47:660-670.
    • (1993) Am J Med Genet , vol.47 , pp. 660-670
    • Opitz, J.M.1    Mollica, F.2    Sorge, G.3    Milana, G.4    Cimino, G.5    Caltabiano, M.6
  • 6
    • 0026658521 scopus 로고
    • Autosomal recessive cleft/lip, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian family
    • Richieri-Costa A, Guion-Almeida ML, Freire-Maia N, Pinheiro N (1992): Autosomal recessive cleft/lip, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family. Am J Med Genet 44:158-162.
    • (1992) Am J Med Genet , vol.44 , pp. 158-162
    • Richieri-Costa, A.1    Guion-Almeida, M.L.2    Freire-Maia, N.3    Pinheiro, N.4
  • 7
    • 0029900742 scopus 로고    scopus 로고
    • Confirmation of the Catania brachydactylous type of acrofacial dysostosis: Report of a second family
    • Wulfsberg BA, Supovitz KR, Campbell AB, Lurie IW (1996): Confirmation of the Catania brachydactylous type of acrofacial dysostosis: Report of a second family. Am J Med Genet 63:554-557.
    • (1996) Am J Med Genet , vol.63 , pp. 554-557
    • Wulfsberg, B.A.1    Supovitz, K.R.2    Campbell, A.B.3    Lurie, I.W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.