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Microcephalic, osteodysplastic, primordial dwarfism.
Australas Radiol 1993; 37(1):111-4AR

Abstract

A case of microcephalic, osteodysplastic, primordial dwarfism (cephaloskeletal dysplasia of Taybi and Linder) is reported. This rare disease is characterised by unique clinical appearances and diagnostic radiographic findings. It is also associated with distinctive brain abnormalities. The latter include micrencephaly, lissencephaly, corpus callosum aplasia/agenesis and unusual histological brain abnormalities.

Authors+Show Affiliations

Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8323498

Citation

Kozlowski, K, et al. "Microcephalic, Osteodysplastic, Primordial Dwarfism." Australasian Radiology, vol. 37, no. 1, 1993, pp. 111-4.
Kozlowski K, Donovan T, Masel J, et al. Microcephalic, osteodysplastic, primordial dwarfism. Australas Radiol. 1993;37(1):111-4.
Kozlowski, K., Donovan, T., Masel, J., & Wright, R. G. (1993). Microcephalic, osteodysplastic, primordial dwarfism. Australasian Radiology, 37(1), pp. 111-4.
Kozlowski K, et al. Microcephalic, Osteodysplastic, Primordial Dwarfism. Australas Radiol. 1993;37(1):111-4. PubMed PMID: 8323498.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephalic, osteodysplastic, primordial dwarfism. AU - Kozlowski,K, AU - Donovan,T, AU - Masel,J, AU - Wright,R G, PY - 1993/2/1/pubmed PY - 1993/2/1/medline PY - 1993/2/1/entrez SP - 111 EP - 4 JF - Australasian radiology JO - Australas Radiol VL - 37 IS - 1 N2 - A case of microcephalic, osteodysplastic, primordial dwarfism (cephaloskeletal dysplasia of Taybi and Linder) is reported. This rare disease is characterised by unique clinical appearances and diagnostic radiographic findings. It is also associated with distinctive brain abnormalities. The latter include micrencephaly, lissencephaly, corpus callosum aplasia/agenesis and unusual histological brain abnormalities. SN - 0004-8461 UR - https://www.unboundmedicine.com/medline/citation/8323498/Microcephalic_osteodysplastic_primordial_dwarfism_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0004-8461&date=1993&volume=37&issue=1&spage=111 DB - PRIME DP - Unbound Medicine ER -