A variant or a "new" postaxial acrofacial dysostosis syndrome
Jerzy Sułko1, Dariusz Kotulski, Kazimierz Kozlowski
1Orthopaedic and Traumatology Division, Children's University Hospital, Krakow, Poland.
European Journal of Pediatrics
|February 21, 2008
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.
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