Neuropathologic findings in thanatophoric dysplasia
- 1 January 1984
- journal article
- research article
- Published by Springer Nature in Acta Neuropathologica
- Vol. 63 (3) , 218-228
- https://doi.org/10.1007/bf00685248
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.This publication has 45 references indexed in Scilit:
- Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasiaAmerican Journal of Medical Genetics, 1983
- THANATOPHORIC DYSPLASIA OF IDENTICAL TWINSActa Pathologica Japonica, 1981
- EPIPHYSEAL CARTILAGE CHEMISTRY IN THANATOPHORIC DWARFISMThe Lancet, 1977
- THANATOPHORIC DWARFISM IN TRIPLETSThe Lancet, 1974
- The so-called ?cloverleaf skull syndrome?Pediatric Radiology, 1974
- Thanatophoric DwarfismJournal of Medical Genetics, 1973
- Effect of fluorodeoxyuridine, colcemid, and bromodeoxyuridine on developing neocortex of the mouseJournal of Anatomy, 1973
- Time of origin of corresponding cell classes in the cerebral cortex of normal and reeler mutant mice: An autoradiographic analysisJournal of Comparative Neurology, 1973
- Cerebral cortex of the mouse after prenatal chemical insultJournal of Anatomy, 1971
- Cloverleaf Skull and Thanatophoric DwarfismAustralasian Radiology, 1970