caa a22 4500 475754840 CHVBK 20180406123535.0 cr unu---uuuuu 170329e20000801xx s 000 0 eng 10.1007/s002470000264 doi (NATIONALLICENCE)springer-10.1007/s002470000264 Cephaloskeletal dysplasia (Taybi-Linder syndrome; osteodysplastic primordial dwarfism type III): report of two cases and review of the literature [Elektronische Daten] [G. F. Vichi, G. Currarino, R. L. Wasserman, P. L. Duvina, L. Filippi] 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. Springer-Verlag Berlin Heidelberg, 2000 Vichi G. F. Department of Radiology, A. Meyer Children's Hospital, Via Luca Giordano, 13, 50132 Florence, Italy, IT aut Currarino G. Department of Radiology, Scottish Rite Hospital for Children, Dallas, Texas, USA, US aut Wasserman R. L. Department of Pediatrics, Children's Medical Center, Dallas, Texas, USA, US aut Duvina P. L. Paediatric and Neonatal Unit, Nuovo Ospedale San Giovanni di Dio, Florence, Italy, IT aut Filippi L. Neonatal Intensive Care Unit, University of Sienna, Sienna, Italy, IT aut https://doi.org/10.1007/s002470000264 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s002470000264 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vichi G. F. Department of Radiology, A. Meyer Children's Hospital, Via Luca Giordano, 13, 50132 Florence, Italy, IT aut NATIONALLICENCE 700 1- Currarino G. Department of Radiology, Scottish Rite Hospital for Children, Dallas, Texas, USA, US aut NATIONALLICENCE 700 1- Wasserman R. L. Department of Pediatrics, Children's Medical Center, Dallas, Texas, USA, US aut NATIONALLICENCE 700 1- Duvina P. L. Paediatric and Neonatal Unit, Nuovo Ospedale San Giovanni di Dio, Florence, Italy, IT aut NATIONALLICENCE 700 1- Filippi L. Neonatal Intensive Care Unit, University of Sienna, Sienna, Italy, IT aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer