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Volumn 143, Issue 24, 2007, Pages 3286-3289

Acrofacial dysostosis syndrome type Rodriguez: Prenatal diagnosis and autopsy findings

Author keywords

Acrofacial dysostosis syndrome type Rodriguez; Genee Wiedemann; Nager acrofacial dysostosis syndrome; Postaxial acrofacial dysostosis syndrome; Prenatal ultrasound; Skeletal dysplasia

Indexed keywords

ACROFACIAL DYSOSTOSIS RODRIGUEZ TYPE; AUTOPSY; CASE REPORT; COLOBOMA; CONFERENCE PAPER; FACE MALFORMATION; FETUS; FETUS ECHOGRAPHY; FETUS MONITORING; GESTATION PERIOD; HUMAN; LIMB MALFORMATION; MALE; MALFORMATION SYNDROME; MICROGNATHIA; NOSE MALFORMATION; POLYTHELIA; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 37249061185     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32021     Document Type: Conference Paper
Times cited : (9)

References (15)
  • 1
    • 0036155966 scopus 로고    scopus 로고
    • Lethal acrofacial sysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis
    • Bates AW, Hall CM, Morgan H, Rosser EM, Scheimberg I. 2002. Lethal acrofacial sysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis. Clin Dysmorphol 11: 63-66.
    • (2002) Clin Dysmorphol , vol.11 , pp. 63-66
    • Bates, A.W.1    Hall, C.M.2    Morgan, H.3    Rosser, E.M.4    Scheimberg, I.5
  • 3
    • 33646222171 scopus 로고
    • Am J Med Genet
    • Reply to Dr. Rodriguez et al
    • Fryns JP. 1992. Reply to Dr. Rodriguez et al. Am J Med Genet 42:852.
    • (1992) , vol.42 , pp. 852
    • Fryns, J.P.1
  • 4
    • 85080847425 scopus 로고    scopus 로고
    • On the nosology of severe acrofacial dysostosis with limb deficiency
    • Fryns JP. 1999. On the nosology of severe acrofacial dysostosis with limb deficiency. Am J Med Genet 82:282-283.
    • (1999) Am J Med Genet , vol.82 , pp. 282-283
    • Fryns, J.P.1
  • 5
    • 0025827864 scopus 로고
    • New lethal acrofacial dysostosis syndrome
    • Fryns JP, Kleczkowska A. 1991. New lethal acrofacial dysostosis syndrome. Am J Med Genet 39:223-224.
    • (1991) Am J Med Genet , vol.39 , pp. 223-224
    • Fryns, J.P.1    Kleczkowska, A.2
  • 6
    • 0023810742 scopus 로고
    • Nager acrofacial dysostosis: Evidence for apparent heterogeneity
    • Goldstein DJ, Mirkin LD. 1988. Nager acrofacial dysostosis: Evidence for apparent heterogeneity. Am J Med Genet 30: 741-746.
    • (1988) Am J Med Genet , vol.30 , pp. 741-746
    • Goldstein, D.J.1    Mirkin, L.D.2
  • 8
    • 0021332220 scopus 로고
    • Acrofacial dysostosis with severe facial clefting and limb reduction
    • Kawira EL, Weaver DD, Bender HA. 1984. Acrofacial dysostosis with severe facial clefting and limb reduction. Am J Med Genet 17:641-647.
    • (1984) Am J Med Genet , vol.17 , pp. 641-647
    • Kawira, E.L.1    Weaver, D.D.2    Bender, H.A.3
  • 9
    • 0023391438 scopus 로고
    • Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genee and Wiedemann
    • Opitz JM. 1987. Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genee and Wiedemann. Am J Med Genet 27:959-963.
    • (1987) Am J Med Genet , vol.27 , pp. 959-963
    • Opitz, J.M.1
  • 10
    • 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 47:660-678.
    • (1993) Am J Med Genet , vol.47 , pp. 660-678
    • Opitz, J.M.1    Mollica, F.2    Sorge, G.3    Milana, G.4    Cimino, G.5    Caltabiano, M.6
  • 11
    • 0026573551 scopus 로고
    • Acrofacial dysostosis syndrome type Rodriguez: A new lethal MCA syndrome
    • Petit P, Moerman P, Fryns JP. 1992. Acrofacial dysostosis syndrome type Rodriguez: A new lethal MCA syndrome. Am J Med Genet 42:343-345.
    • (1992) Am J Med Genet , vol.42 , pp. 343-345
    • Petit, P.1    Moerman, P.2    Fryns, J.P.3
  • 12
  • 13
    • 37249036844 scopus 로고    scopus 로고
    • Rodriguez JI, Palácios J, Urioste M. 1992a. Response to Dr. Hecht. Am J Med Genet 42:401.
    • Rodriguez JI, Palácios J, Urioste M. 1992a. Response to Dr. Hecht. Am J Med Genet 42:401.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.