Thanatophoric dysplasia: neuropathological findings of two cases

被引:3
作者
Noronha, L
Prevedello, LMS
Maggio, EM
Serapiao, MJ
Torres, LFB
机构
[1] Univ Fed Parana, Serv Anat Patol, Unidade Patol Pediat & Perinatal, BR-80060000 Curitiba, Parana, Brazil
[2] Univ Fed Parana, Dept Patol Med, BR-80060000 Curitiba, Parana, Brazil
关键词
malformations; thanatophoric dysplasia; craniosynostosis; chondrodysplasia;
D O I
10.1590/S0004-282X2002000100024
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
We report two cases of thanatophoric dysplasia (TD) with detailed neuropathologic evaluation. One case was representative of TD type I and the other TD type II. The case with TD type I showed macrocephaly, narrow thoracic cage, pulmonary hypoplasia and bowed limbs. Radiological study showed flat vertebral bodies, short curved appendicular skeleton and flaring of metaphyses. The other case (TD type 2) showed macrocephaly, cleft palate, short limbs and cloverleaf skull. Radiological findings were generalized platyspondy with excessive intervertebral disc space heights and a large head. Microscopic examination of both cases revealed temporal lobe polymicrogyria, abnormalities of the hippocampus and heterotopic neuroglial tissue within the meninges. There were no noticeable differences in CNS abnormalities between TD type I and II.
引用
收藏
页码:133 / 137
页数:5
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