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Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature.
Pediatr Radiol 2000; 30(9):644-52PR

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.

Authors+Show Affiliations

Department of Radiology, A. Meyer Children's Hospital, Florence, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11009306

Citation

Vichi, G F., et al. "Cephaloskeletal Dysplasia (Taybi-Linder Syndrome: Osteodysplastic Primordial Dwarfism Type III): Report of Two Cases and Review of the Literature." Pediatric Radiology, vol. 30, no. 9, 2000, pp. 644-52.
Vichi GF, Currarino G, Wasserman RL, et al. Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. Pediatr Radiol. 2000;30(9):644-52.
Vichi, G. F., Currarino, G., Wasserman, R. L., Duvina, P. L., & Filippi, L. (2000). Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. Pediatric Radiology, 30(9), pp. 644-52.
Vichi GF, et al. Cephaloskeletal Dysplasia (Taybi-Linder Syndrome: Osteodysplastic Primordial Dwarfism Type III): Report of Two Cases and Review of the Literature. Pediatr Radiol. 2000;30(9):644-52. PubMed PMID: 11009306.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. AU - Vichi,G F, AU - Currarino,G, AU - Wasserman,R L, AU - Duvina,P L, AU - Filippi,L, PY - 2000/9/29/pubmed PY - 2001/2/28/medline PY - 2000/9/29/entrez SP - 644 EP - 52 JF - Pediatric radiology JO - Pediatr Radiol VL - 30 IS - 9 N2 - 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. SN - 0301-0449 UR - https://www.unboundmedicine.com/medline/citation/11009306/Cephaloskeletal_dysplasia__Taybi_Linder_syndrome:_osteodysplastic_primordial_dwarfism_type_III_:_report_of_two_cases_and_review_of_the_literature_ L2 - https://dx.doi.org/10.1007/s002470000264 DB - PRIME DP - Unbound Medicine ER -