Mondal Akash, Mandal Bappa, Das Ram N, Chatterjee Uttara, Mukherjee Suchandra
Department of Pathology, IPGME&R, Kolkata, West Bengal, India.
Department of Neonatology, IPGME&R, Kolkata, West Bengal, India.
Indian J Pathol Microbiol. 2021 Oct-Dec;64(4):776-779. doi: 10.4103/IJPM.IJPM_917_20.
Thanatophoric dysplasia type 1 (TD1) is a lethal form of osteochondral dysplasia due to mutation of FGFR3 gene. In addition to severe shortening of the limbs there is temporo-occipital lobe dysplasia along with a range of other CNS anomalies. In this report we describe the radiological and anatomical features at autopsy in neonate with TD1 along with the CNS anomalies. We have also summarized the key distinguishing features of TD1 from other common types of osteochondral dysplasia. An accurate diagnosis is important for genetic counseling and impact on future pregnancies.
1型致死性骨发育不良（TD1）是一种因FGFR3基因突变导致的致死性骨软骨发育不良。除了四肢严重短小外，还存在颞枕叶发育不良以及一系列其他中枢神经系统异常。在本报告中，我们描述了一名患有TD1的新生儿尸检时的放射学和解剖学特征以及中枢神经系统异常。我们还总结了TD1与其他常见类型骨软骨发育不良的关键鉴别特征。准确的诊断对于遗传咨询以及对未来妊娠的影响至关重要。
