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Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.
Am J Med Genet A. 2004 Aug 15; 129A(1):73-6.AJ

Abstract

We report on two patients with a unique constellation of anomalies resembling the Nager acrofacial dysostosis syndrome. Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay. We postulate that the inheritance is autosomal recessive on the basis of similarly affected male and female sibs.

Authors+Show Affiliations

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15266620

Citation

Kennedy, Shelley J., and Ahmad S. Teebi. "Newly Recognized Autosomal Recessive Acrofacial Dysostosis Syndrome Resembling Nager Syndrome." American Journal of Medical Genetics. Part A, vol. 129A, no. 1, 2004, pp. 73-6.
Kennedy SJ, Teebi AS. Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. Am J Med Genet A. 2004;129A(1):73-6.
Kennedy, S. J., & Teebi, A. S. (2004). Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. American Journal of Medical Genetics. Part A, 129A(1), 73-6.
Kennedy SJ, Teebi AS. Newly Recognized Autosomal Recessive Acrofacial Dysostosis Syndrome Resembling Nager Syndrome. Am J Med Genet A. 2004 Aug 15;129A(1):73-6. PubMed PMID: 15266620.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. AU - Kennedy,Shelley J, AU - Teebi,Ahmad S, PY - 2004/7/22/pubmed PY - 2005/1/6/medline PY - 2004/7/22/entrez SP - 73 EP - 6 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 129A IS - 1 N2 - We report on two patients with a unique constellation of anomalies resembling the Nager acrofacial dysostosis syndrome. Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay. We postulate that the inheritance is autosomal recessive on the basis of similarly affected male and female sibs. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15266620/Newly_recognized_autosomal_recessive_acrofacial_dysostosis_syndrome_resembling_Nager_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.30113 DB - PRIME DP - Unbound Medicine ER -