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Neuropathologic findings in thanatophoric dysplasia.
Acta Neuropathol. 1984; 63(3):218-28.AN

Abstract

Neuropathologic study of eight cases of thanatophoric dysplasia (dwarfism) reveals developmental abnormalities including hypoplasia of posterior fossa, megalencephaly, cerebral gyral disorganization, hippocampal malformation, neuronal heterotopia, nuclear dysplasia, and abnormal axonal bundles. There are no noticeable differences in CNS abnormalities between thanatophoric dysplasia with and without cloverleaf skull (Kleeblattschädel). The CNS abnormalities, likely the result of abnormal neuronal migration and cytoarchitectonic disarrangement, are apparently not caused by skeletal abnormalities. The observation suggests that CNS abnormalities represent a characteristic and distinct manifestation of thanatophoric dysplasia.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6464678

Citation

Ho, K L., et al. "Neuropathologic Findings in Thanatophoric Dysplasia." Acta Neuropathologica, vol. 63, no. 3, 1984, pp. 218-28.
Ho KL, Chang CH, Yang SS, et al. Neuropathologic findings in thanatophoric dysplasia. Acta Neuropathol. 1984;63(3):218-28.
Ho, K. L., Chang, C. H., Yang, S. S., & Chason, J. L. (1984). Neuropathologic findings in thanatophoric dysplasia. Acta Neuropathologica, 63(3), 218-28.
Ho KL, et al. Neuropathologic Findings in Thanatophoric Dysplasia. Acta Neuropathol. 1984;63(3):218-28. PubMed PMID: 6464678.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neuropathologic findings in thanatophoric dysplasia. AU - Ho,K L, AU - Chang,C H, AU - Yang,S S, AU - Chason,J L, PY - 1984/1/1/pubmed PY - 1984/1/1/medline PY - 1984/1/1/entrez SP - 218 EP - 28 JF - Acta neuropathologica JO - Acta Neuropathol VL - 63 IS - 3 N2 - Neuropathologic study of eight cases of thanatophoric dysplasia (dwarfism) reveals developmental abnormalities including hypoplasia of posterior fossa, megalencephaly, cerebral gyral disorganization, hippocampal malformation, neuronal heterotopia, nuclear dysplasia, and abnormal axonal bundles. There are no noticeable differences in CNS abnormalities between thanatophoric dysplasia with and without cloverleaf skull (Kleeblattschädel). The CNS abnormalities, likely the result of abnormal neuronal migration and cytoarchitectonic disarrangement, are apparently not caused by skeletal abnormalities. The observation suggests that CNS abnormalities represent a characteristic and distinct manifestation of thanatophoric dysplasia. SN - 0001-6322 UR - https://www.unboundmedicine.com/medline/citation/6464678/Neuropathologic_findings_in_thanatophoric_dysplasia_ L2 - http://www.diseaseinfosearch.org/result/9674 DB - PRIME DP - Unbound Medicine ER -