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Volumn 137 A, Issue 3, 2005, Pages 263-268

Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany

Author keywords

Anatomical collection; CGH; Developmental pathology; Johann Friedrich Meckel the Younger (1781 1833); Nager AFD

Indexed keywords

ANATOMY; ANEUPLOIDY; ARTICLE; CLINICAL FEATURE; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CYTOGENETICS; FETUS; GENETIC ANALYSIS; GERMANY; HUMAN; HUMAN TISSUE; LIMB MALFORMATION; MALE; MANDIBULOFACIAL DYSOSTOSIS; NAGER ACROFACIAL DYSOSTOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PRIORITY JOURNAL; RADIOGRAPHY; TIBIA TORSION; UMBILICAL ARTERY; UNIVERSITY;

EID: 24344472526     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30889     Document Type: Article
Times cited : (3)

References (39)
  • 1
    • 0027861014 scopus 로고
    • Fanconi anemia diagnosis and the diepoxybutane (DEB) test
    • Auerbach AD. 1993. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol 21:731-733.
    • (1993) Exp Hematol , vol.21 , pp. 731-733
    • Auerbach, A.D.1
  • 2
    • 0002725969 scopus 로고    scopus 로고
    • Fanconi anemia
    • Vogelstein B, Kinzler KW, editors. New York: McGraw Hill, Inc.
    • Auerbach AD, Buchwald M, Joenje H. 1999. Fanconi anemia. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGraw Hill, Inc., pp. 317-332.
    • (1999) The Genetic Basis of Human Cancer , pp. 317-332
    • Auerbach, A.D.1    Buchwald, M.2    Joenje, H.3
  • 3
    • 0026342840 scopus 로고
    • Nager acrofacial dysostosis: Male-to-male transmission in two families
    • Aylsworth AS, Lin AE, Friedman PA. 1991. Nager acrofacial dysostosis: Male-to-male transmission in two families. Am J Med Genet 41:83-88.
    • (1991) Am J Med Genet , vol.41 , pp. 83-88
    • Aylsworth, A.S.1    Lin, A.E.2    Friedman, P.A.3
  • 4
    • 0027180245 scopus 로고
    • Nager acrofacial dysosotosis: Minor familial manifestations supporting dominant inheritance
    • Bonthron DT, Macgregor DF, Barr DG. 1993. Nager acrofacial dysosotosis: Minor familial manifestations supporting dominant inheritance. Clin Genet 43:127-131.
    • (1993) Clin Genet , vol.43 , pp. 127-131
    • Bonthron, D.T.1    Macgregor, D.F.2    Barr, D.G.3
  • 6
    • 0029867615 scopus 로고    scopus 로고
    • Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: Complex defect of blastogenesis?
    • David A, Mercier J, Verloes A. 1996. Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: Complex defect of blastogenesis? Am J Med Genet 62:1-5.
    • (1996) Am J Med Genet , vol.62 , pp. 1-5
    • David, A.1    Mercier, J.2    Verloes, A.3
  • 8
    • 0031829384 scopus 로고    scopus 로고
    • Cloning, characterization, and chromosomal assignment of the human ortholog of murine ZFP-37, a candidate gene for Nager syndrome
    • Dreyer SD, Zhou L, Machado MA, Horton WA, Zabel B, Winterpacht A, Lee B. 1998. Cloning, characterization, and chromosomal assignment of the human ortholog of murine ZFP-37, a candidate gene for Nager syndrome. Mamm Genome 9:458-462.
    • (1998) Mamm Genome , vol.9 , pp. 458-462
    • Dreyer, S.D.1    Zhou, L.2    Machado, M.A.3    Horton, W.A.4    Zabel, B.5    Winterpacht, A.6    Lee, B.7
  • 9
    • 0029944076 scopus 로고    scopus 로고
    • Nager acrofacial dysosotosis. An adult male with severe neurological deficit
    • Fryns JP, Bonhomme A, Van den Berghe H. 1996. Nager acrofacial dysosotosis. An adult male with severe neurological deficit. Genet Couns 7:147-151.
    • (1996) Genet Couns , vol.7 , pp. 147-151
    • Fryns, J.P.1    Bonhomme, A.2    Van Den Berghe, H.3
  • 11
    • 0036904055 scopus 로고    scopus 로고
    • Common craniofacial anomalies: The facial dysostoses
    • Hunt JA, Hobar PC. 2002. Common craniofacial anomalies: The facial dysostoses. Plast Reconstr Surg 110:1714-1725.
    • (2002) Plast Reconstr Surg , vol.110 , pp. 1714-1725
    • Hunt, J.A.1    Hobar, P.C.2
  • 13
    • 3342905112 scopus 로고    scopus 로고
    • Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome
    • Kennedy JS, Teebi AS. 2004. Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. Am J Med Genet 129A:73-76
    • (2004) Am J Med Genet , vol.129 A , pp. 73-76
    • Kennedy, J.S.1    Teebi, A.S.2
  • 15
    • 0036854979 scopus 로고    scopus 로고
    • Johann Friedrich Meckel d. J. (1781-1833) und die moderne Teratologie
    • Klunker R, Göbbel L, Musil A, Tönnies H, Schultka R. 2002. Johann Friedrich Meckel d. J. (1781-1833) und die moderne Teratologie. Ann Anat 184:535-540.
    • (2002) Ann Anat , vol.184 , pp. 535-540
    • Klunker, R.1    Göbbel, L.2    Musil, A.3    Tönnies, H.4    Schultka, R.5
  • 17
    • 0032997902 scopus 로고    scopus 로고
    • Sonographic features of fetal trisomy 18 at 13 and 14 weeks: Four case reports
    • Lam YH, Tang MH. 1999. Sonographic features of fetal trisomy 18 at 13 and 14 weeks: Four case reports. Ultrasound Obstet Gynecol 13:366-369.
    • (1999) Ultrasound Obstet Gynecol , vol.13 , pp. 366-369
    • Lam, Y.H.1    Tang, M.H.2
  • 18
    • 0026335232 scopus 로고
    • Fanconi anemia presenting unexpectedly in an adult kindred with no dismorphic features
    • Liu JM, Auerbach AD, Young NS. 1991. Fanconi anemia presenting unexpectedly in an adult kindred with no dismorphic features. Am J Med 91:555-557.
    • (1991) Am J Med , vol.91 , pp. 555-557
    • Liu, J.M.1    Auerbach, A.D.2    Young, N.S.3
  • 19
    • 0142227881 scopus 로고    scopus 로고
    • Upper limb abnormalities as an isolated ultrasonographic finding in early detection of trisomy 18. A case report. 2003
    • Makrydimas G, Papanikolaou E, Paraskevaidis E, Paschopoulus M, Lolis D. 2003. Upper limb abnormalities as an isolated ultrasonographic finding in early detection of trisomy 18. A case report. 2003. Fetal Diagn Ther 18:401-403.
    • (2003) Fetal Diagn Ther , vol.18 , pp. 401-403
    • Makrydimas, G.1    Papanikolaou, E.2    Paraskevaidis, E.3    Paschopoulus, M.4    Lolis, D.5
  • 21
    • 0002696740 scopus 로고
    • Das Gehörorgan bei den angeborenen Kopf-Missbildungen
    • Nager FR, de Reyner JP. 1948. Das Gehörorgan bei den angeborenen Kopf-Missbildungen. Pract Oto Rhinolaryngol 10:1-28.
    • (1948) Pract Oto Rhinolaryngol , vol.10 , pp. 1-28
    • Nager, F.R.1    De Reyner, J.P.2
  • 22
    • 0032581131 scopus 로고    scopus 로고
    • Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen
    • Oostra B-J, Baljet B, Hennekam RCM. 1998. Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. Am J Med Genet 78:195-197.
    • (1998) Am J Med Genet , vol.78 , pp. 195-197
    • Oostra, B.-J.1    Baljet, B.2    Hennekam, R.C.M.3
  • 23
    • 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
  • 26
    • 0020614922 scopus 로고
    • Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case
    • Pfeiffer RA, Stoess H. 1983. Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case. Am J Med Genet 15:255-260.
    • (1983) Am J Med Genet , vol.15 , pp. 255-260
    • Pfeiffer, R.A.1    Stoess, H.2
  • 27
    • 0018222514 scopus 로고
    • Anatomical analysis of the developmental effects of aneuploidy in man - The 18-trisomy syndrome: II. Anomalies of the upper and the lower limbs
    • Ramirez-Castro JL, Bersu ET. 1978. Anatomical analysis of the developmental effects of aneuploidy in man-the 18-trisomy syndrome: II. Anomalies of the upper and the lower limbs. Am J Med Genet 2:285-306.
    • (1978) Am J Med Genet , vol.2 , pp. 285-306
    • Ramirez-Castro, J.L.1    Bersu, E.T.2
  • 29
    • 0028905268 scopus 로고
    • Prenatal detection of preaxial upper limb reduction in trisomy 18
    • Sepulveda W, Treadwell MC, Fisk NM. 1995. Prenatal detection of preaxial upper limb reduction in trisomy 18. Obstet Gynecol 85:847-850.
    • (1995) Obstet Gynecol , vol.85 , pp. 847-850
    • Sepulveda, W.1    Treadwell, M.C.2    Fisk, N.M.3
  • 30
    • 33646223949 scopus 로고
    • Tetrasomy 18p in a child with trisomy 18 phenotype
    • Singer TS, Kohn G, Yatziv S. 1990. Tetrasomy 18p in a child with trisomy 18 phenotype. Am J Med Genet 50:94-95.
    • (1990) Am J Med Genet , vol.50 , pp. 94-95
    • Singer, T.S.1    Kohn, G.2    Yatziv, S.3
  • 33
    • 3242658933 scopus 로고    scopus 로고
    • Fanconi anaemia and leukemia-clinical and molecular aspects
    • Tischkowitz M, Dokal I. 2004. Fanconi anaemia and leukemia-clinical and molecular aspects. Br J Hematol 126:176-191.
    • (2004) Br J Hematol , vol.126 , pp. 176-191
    • Tischkowitz, M.1    Dokal, I.2
  • 35
    • 0036854874 scopus 로고    scopus 로고
    • Molekular-zytogenetische analysen an alter-DNA (aDNA) anhand von Präparaten der meckelschen Sammlungen zu halle
    • Tönnies H, Klunker R, Saar K, Göbbel L, Musil A, Schultka R. 2002. Molekular-zytogenetische analysen an alter-DNA (aDNA) anhand von Präparaten der meckelschen Sammlungen zu halle. Ann Anat 184:541-545.
    • (2002) Ann Anat , vol.184 , pp. 541-545
    • Tönnies, H.1    Klunker, R.2    Saar, K.3    Göbbel, L.4    Musil, A.5    Schultka, R.6
  • 36
    • 14844314847 scopus 로고    scopus 로고
    • First systematic CGH-based analyses of ancient DNA samples of malformed fetuses preserved in the Meckel Anatomical Collection in Halle/Saale, Germany
    • Tönnies H, Gerlach A, Klunker R, Schultka R, Göbbel L. 2005. First systematic CGH-based analyses of ancient DNA samples of malformed fetuses preserved in the Meckel Anatomical Collection in Halle/Saale, Germany. J Histochem Cytochem 53:381-384.
    • (2005) J Histochem Cytochem , vol.53 , pp. 381-384
    • Tönnies, H.1    Gerlach, A.2    Klunker, R.3    Schultka, R.4    Göbbel, L.5
  • 39
    • 0027176020 scopus 로고
    • Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies
    • Zori RT, Gray BA, Bent-Williams A, Driscoll DJ, Williams CA, Zackowski JL. 1993. Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies. Am J Med Genet 46:379-383.
    • (1993) Am J Med Genet , vol.46 , pp. 379-383
    • Zori, R.T.1    Gray, B.A.2    Bent-Williams, A.3    Driscoll, D.J.4    Williams, C.A.5    Zackowski, J.L.6


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