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A variant or a "new" postaxial acrofacial dysostosis syndrome.
Eur J Pediatr. 2008 Dec; 167(12):1385-8.EJ

Abstract

In this paper, we report a boy with remarkable phenotype and noteworthy radiographic abnormalities. He presented with distinctive facies, mesomelic shortening and asymmetry of the extremities, symmetrical ulnar and fibular ray absence in the hands and feet, with unique hypoplastic/dysplastic radiographic abnormalities. His mental development was normal. We believe that he represents a previously unreported form of the postaxial acrofacial dysostosis syndrome.

Authors+Show Affiliations

Orthopaedic and Traumatology Division, Children's University Hospital, Krakow, Poland.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18286304

Citation

Sułko, Jerzy, et al. "A Variant or a "new" Postaxial Acrofacial Dysostosis Syndrome." European Journal of Pediatrics, vol. 167, no. 12, 2008, pp. 1385-8.
Sułko J, Kotulski D, Kozlowski K. A variant or a "new" postaxial acrofacial dysostosis syndrome. Eur J Pediatr. 2008;167(12):1385-8.
Sułko, J., Kotulski, D., & Kozlowski, K. (2008). A variant or a "new" postaxial acrofacial dysostosis syndrome. European Journal of Pediatrics, 167(12), 1385-8. https://doi.org/10.1007/s00431-008-0678-1
Sułko J, Kotulski D, Kozlowski K. A Variant or a "new" Postaxial Acrofacial Dysostosis Syndrome. Eur J Pediatr. 2008;167(12):1385-8. PubMed PMID: 18286304.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A variant or a "new" postaxial acrofacial dysostosis syndrome. AU - Sułko,Jerzy, AU - Kotulski,Dariusz, AU - Kozlowski,Kazimierz, Y1 - 2008/02/20/ PY - 2007/12/04/received PY - 2008/01/23/accepted PY - 2008/2/21/pubmed PY - 2009/2/6/medline PY - 2008/2/21/entrez SP - 1385 EP - 8 JF - European journal of pediatrics JO - Eur J Pediatr VL - 167 IS - 12 N2 - In this paper, we report a boy with remarkable phenotype and noteworthy radiographic abnormalities. He presented with distinctive facies, mesomelic shortening and asymmetry of the extremities, symmetrical ulnar and fibular ray absence in the hands and feet, with unique hypoplastic/dysplastic radiographic abnormalities. His mental development was normal. We believe that he represents a previously unreported form of the postaxial acrofacial dysostosis syndrome. SN - 1432-1076 UR - https://www.unboundmedicine.com/medline/citation/18286304/A_variant_or_a_"new"_postaxial_acrofacial_dysostosis_syndrome_ L2 - https://dx.doi.org/10.1007/s00431-008-0678-1 DB - PRIME DP - Unbound Medicine ER -