Bilateral radial deficiency with lower limb involvement

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 193-197

  Spranger, Stephanie ^a,c   Weber, Michael ^a   Tröger, Jochen ^a   Tariverdian, Gholamali ^a   Opitz, John M ^b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b Foundation for Developmental and Medical Genetics   (United States)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

absent radii; absent thumbs; developmental field defect; homologous field; tibia aplasia; tibia hypoplasia

Indexed keywords

ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; HUMAN; INFANT; LEG MALFORMATION; MALE; PRIORITY JOURNAL; RADIUS APLASIA; THUMB MALFORMATION; TIBIA; TOE MALFORMATION;

ADULT; FEMALE; FOLLOW-UP STUDIES; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HEMANGIOMA; HUMANS; INFANT; MALE; PEDIGREE; RADIUS; THUMB; TIBIA; TOES;

EID: 0029869418     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<193::AID-AJMG34>3.0.CO;2-H     Document Type: Article

References (25)

1. Anayane-Yeboa K, Jaramillo S, Nagel C, Grebin B (1985): Tetraphocomelia in the syndrome of thrombocytopenia with absent radius. Am J Med Genet 20:571-576.
2. Birch-Jensen A (1949): Congenital Deformities of the Upper Extremities. Kopenhagen: E. Munksgaard.
3. Carroll RE, Louis DS (1974): Anomalies associated with radial dysplasia. J Pediatr 84:409-411.
4. Corsello G, Maresi E, Corrao AM, Dimita U, Lo-Cascio M, Cammarata M (1992): VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. Am J Med Genet 44:813-815.
5. Czeizel AE, Vitez M, Kodaj I, Lenz W (1993): A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975-1984. Clin Genet 44:32-36.
6. Drinnenberg A (1935): Klumphandbildung infolge angeborenen Radiusdefektes und ihre Behandlung. Z Orthop Chir 63:297.
7. Evans JA, Vitez M, Czeizel A (1993): On the biological nature of associations: Evidence from a study of radial deficiencies and associated malformations. In Opitz JM (ed): "Blastogenesis: Normal and Abnormal." New York: Wiley-Liss for the March of Dimes Birth Defects Foundation: BD:OAS XXIX (1):63-81.
8. Glanz A, Fraser FC (1982): Spectrum of anomalies in Fanconi anemia. J Med Genet 19:412-416.
9. Grix A Jr (1982): Invited Editorial Comment: Malformations in infants of diabetic mothers. Am J Med Genet 13:131-137.
10. Hall JG (1987): Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet 24:79-83.
11. Latt SA, Kaiser TN, Lojewski A, Dougherty C, Juergens L, Brefach S, Sahar E, Gustashaw K, Schreck RR, Powers M, Lalande M (1982): Cytogenetics and flow cytometric studies of cells from patients with Fanconi's anemia. Cytogenet Cell Genet 33:133-138.
12. Lewin SO, Opitz JM (1986): Fibular a/hypoplasia: Review and documentation of a fibular developmental field. Am J Med Genet Supp 2: 215-238.
13. Martin GR (1995): Why thumbs are up. Nature 374:410-411.
14. Nelson CE, Tabin C (1995): Footnote on limb evolution. Nature 375: 630-631.
15. Opitz JM (1993): Blastogenesis and the "primary field" in human development. New York: Wiley Liss for the National Foundation-March of Dimes. BD:OAS XXIX (I):3-37.
16. Opitz JM (1995): Limb anomalies from evolutionary, developmental and genetic perspectives. In Neri G, Martini-Neri E, Opitz JM (eds): " Gene Regulation and Fetal Development." New York: Wiley-Liss, in press.
17. Parr BA, McMahon AP (1995): Dorsalizing signal Wnt 7a required for normal polarity of D-V and A-P axes of mouse limb. Nature 374: 350-353.
18. Reinhardt K, Pfeiffer RA (1967): Ulno-fibuläre Dysplasie. Eine autosomal-dominant vererbte Mikromesomelie ähnlich dem Nievergeltsyndrom. Fortschr Roentgenstr 107:379-391.
19. Siervogel RM, Roche AF, Roche EM (1979): The identification of developmental fields using distributions of fingerprint patterns and ridge counts. New York: Alan R. Liss, Inc., for the National Foundation: March of Dimes. BD:OAS XV (6):135-147.
20. Sordino P, van der Hoeven F, Duboule D (1995): Hox gene expression in teleost fins and the origin of vertebrate digits. Nature 375: 678-681.
21. Tabin CJ (1991): Retinoids, homeoboxes, and growth factors: Towards molecular models for limb development. Cell 66:199-217.
22. Temtamy S, McKusick VA (1978): The genetics of hand malformations. New York: Alan R. Liss, Inc., for the National Foundation-March of Dimes. BD:OAS XIV (3):1-619.
23. Van den Berg DJ, Francke U (1993): Roberts syndrome: A review of 100 cases and a new rating system for severity. Am J Med Genet 47:1104-1123.
24. Vogel A, Rodriguez C, Warnken W, Izpisua Belmonte (1995): Dorsal cell specified by chick LmxI during vertebrate limb development. Nature 378:116-120.
25. Yang Y, Niswander L (1995): Interaction between the signaling molecules Wnt 7a and SHH during vertebrate limb development: Dorsal signals regulate anteriorposterior patterning. Cell 80:939-947.