Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature
| Autor: | G. F. Vichi, P. L. Duvina, Guido Currarino, Luca Filippi, R. L. Wasserman |
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| Rok vydání: | 2000 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Pathology Microcephaly Dwarfism Osteodysplastic primordial dwarfism Bone and Bones Medicine Humans Radiology Nuclear Medicine and imaging Neuroradiology business.industry Cephaloskeletal dysplasia Skull Age Factors Infant Newborn Infant Syndrome medicine.disease Prognosis Magnetic Resonance Imaging Child Preschool Pediatrics Perinatology and Child Health TAYBI-LINDER SYNDROME Female Congenital disease business Tomography X-Ray Computed |
| Zdroj: | Pediatric radiology. 30(9) |
| ISSN: | 0301-0449 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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