Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis

Introduction: Skeletal dysplasias are a heterogeneous group of disorders comprising of more than 300 entities, many of which manifest in the prenatal period, emphasizing the importance of accurate prenatal diagnosis. Detection of a lethal skeletal dysplasia via prenatal ultrasound is often straightforward. However, establishing the specific diagnosis and detailed evaluation of intracranial anomalies are often challenging. Fetal magnetic resonance imaging (MRI) is superior to ultrasound in the detection of abnormal sulcation pattern, corpus callosal agenesis, and posterior fossa anomalies. Hence, it has the potential of delineating neuroimaging features that may not be fully elucidated by ultrasound. The objective of this article is to describe an unusual case of thanatophoric dysplasia (TD) with dysplastic tectal plate and resultant aqueductal stenosis diagnosed on fetal MRI. To the best of our knowledge, this has never been reported before in the literature. A comprehensive review of literature pertaining to TD-associated CNS abnormalities will also be included.

Conclusions: Our reported case adds to the current limited knowledge of this rare entity and emphasizes the crucial role of fetal MRI in expanding the neuroimaging phenotypes of TD.