A variant or a "new" postaxial acrofacial dysostosis syndrome.
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.
Sułko
Jerzy
J
Orthopaedic and Traumatology Division, Children's University Hospital, Krakow, Poland.
Kotulski
Dariusz
D
Kozlowski
Kazimierz
K
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000293:Adolescent; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging*; D004431:Ear, External / Q000002:abnormalities; D006801:Humans; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000000981:diagnostic imaging; D008844:Micrognathism / Q000000981:diagnostic imaging; D010641:Phenotype; D011859:Radiography; D013577:Syndrome