Acrofacial dysostosis type Rodríguez

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 81-85

  Dimitrov, Boyan ^a   Balikova, Irina ^b   Jekova, Nely ^b   Vakrilova, Lilija ^b   Fryns, Jean Pierre ^a   Simeonov, Emil ^b  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

Author keywords

Acrofacial dysostosis; Mandibulofacial dysostosis; Post axial limb defects; Pre axial limb defects; Rodr guez syndrome

Indexed keywords

ARTICLE; CASE REPORT; CAUSE OF DEATH; CENTRAL NERVOUS SYSTEM; DISEASE SEVERITY; FEMALE; FIBULA; HUMAN; ISRAEL; LETHALITY; LIMB DEFECT; LIMB MALFORMATION; MANDIBLE HYPOPLASIA; NAGER ACROFACIAL DYSOSTOSIS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; RIB; SPAIN;

ABNORMALITIES, MULTIPLE; FATAL OUTCOME; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; KARYOTYPING; MANDIBULOFACIAL DYSOSTOSIS; SYNDROME;

EID: 18244397461     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30673     Document Type: Article

References (16)

1. Bates AW, Hall CM, Morgan H, Rosser EM, Scheimberg I. 2002. Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis. Clin Dysmorphol 11:63-66.
2. Fryns JP. 1992. Reply to Dr. Rodríguez et al. Am J Med Genet 42:852.
3. Fryns JP. 1999. On the nosology of severe acrofacial dysostosis with limb deficiency. Am J Med Genet 82:282-283.
4. Fryns JP, Kleczkowska A. 1991. New lethal acrofacial dysostosis syndrome. Am J Med Genet 39:223-224.
5. Goldstein DJ, Mirkin LD. 1988. Nager acrofacial dysostosis: Evidence for apparent heterogeneity. Am J Med Genet 30:741-746.
6. Hecht JT. 1992. New lethal acrofacial dysostosis syndrome. Am J Med Genet 42:400.
7. Hecht JT, Immken LL, Harris LF, Malini S, Scott CI Jr. 1987. The Nager syndrome. Am J Med Genet 27:965-969.
8. Oostra RJ, Baljet B, Hennekam RC. 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.
9. Oostra RJ, Baljet B, Hennekam RC. 1999. Reply to letter to the Editor of Jean-Pierre Fryns "on the nosology of severe acrofacial dysostosis with limb deficiency". Am J Med Genet 82:283.
10. Opitz JM. 1987. Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genée and Wiedemann. Am J Med Genet 27:959-963.
11. 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.
12. Petit P, Moerman P, Fryns JP. 1992. Acrofacial dysostosis syndrome type Rodriguez: A new lethal MCA syndrome. Am J Med Genet 42:343-345.
13. Rodríguez JI, Palácios J, Urioste M. 1990. New acrofacial dysostosis syndrome in 3 sibs. Am J Med Genet 35:484-489.
14. Rodríguez JI, Palácios J, Urioste M. 1992a. Response to Dr. Hecht. Am J Med Genet 42:401.
15. Rodríguez JI, Palácios J, Urioste M. 1992b. Acrofacial dysostosis syndromes. Am J Med Genet 42:851.
16. Wessels MW, Den Hollander NS, Cohen-Overbeek TE, Lesnik Oberstein MS, Nash RM, Wladimiroff JW, Niermeijer MF, Willems PJ. 2002. Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez. Am J Med Genet 113:97-100.