Cephaloskeletal dysplasia (Taybi-Linder syndrome; osteodysplastic primordial dwarfism type III): report of two cases and review of the literature |
| |
| Authors: | G. F. Vichi G. Currarino R. L. Wasserman P. L. Duvina L. Filippi |
| |
| Affiliation: | (1) Department of Radiology, A. Meyer Children's Hospital, Via Luca Giordano, 13, 50132 Florence, Italy, IT;(2) Department of Radiology, Scottish Rite Hospital for Children, Dallas, Texas, USA, US;(3) Department of Radiology University of Texas, Southwestern Medical Center, Dallas, Texas, USA, US;(4) Department of Pediatrics, Children's Medical Center, Dallas, Texas, USA, US;(5) University of Texas, Southwestern Medical Center, Dallas, Texas, USA, US;(6) Paediatric and Neonatal Unit, Nuovo Ospedale San Giovanni di Dio, Florence, Italy, IT;(7) Neonatal Intensive Care Unit, University of Sienna, Sienna, Italy, IT |
| |
| Abstract: | We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalities documented radiographically and with cranial MRI and/or CT. Some dissimilarities were observed in the skeletal findings between the two patients, most likely reflecting phenotypic variability within the same disorder. Some radiographic features were shown to evolve with time in both patients. Also of interest is the unusually long survival of these patients, more than 4 years in the first and of over 6 years in the second. Received: 3 May 1999/Accepted: 10 December 1999 |
| |
| Keywords: | |
| 本文献已被 PubMed SpringerLink 等数据库收录！ |
|
