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Thanatophoric dysplasia, type I

Journal of Perinatology volume 32, pages 476–478 (2012)Cite this article

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The use of low-dose CT scan to confirm the diagnosis of lethal chondrodysplasia has been recently described.1 This procedure allows better definition of the skeleton than both sonography and maternal pelvic magnetic resonance imaging. The American College of Radiology's reference dose for radiation is CT dose index volume (CTDIvol). In our very obese patient, the CTDIvol was 13.9 mGy. The CT dose index volume is roughly equal to the fetal dose in this patient.2, 3 The American College of Radiology's CT accreditation reference CTDIvol in abdominal CT is 25 mGy, which corresponds to an embryo dose of ∼35 mGy in a 70-kg patient. Thus, our fetal dose was within acceptable limits. This value is below the reported dose threshold for the induction of teratogenesis.4

The fetal CT and the post natal images both demonstrate thanatophoric dysplasia (TD), type 1, an autosomal dominant condition, uniformly lethal in the perinatal period. TD is the most common of the platyspondylic lethal skeletal dysplasias (PLSDs). It is divided into type 1 with a normal skull confirmation, as in this case, and type 2 with a clover-leaf skull (kleeblatschadel).5 Both TD1 and TD2 are due to mutations in the fibroblast growth factor receptor 3 gene (FGFR3). There is a single known mutation accounting for cases of TD2 and approximately 12 missense mutations accounting for cases of TD1.6 There are two additional types of PLSD, the Sandiego type and the Torrance–Luton type. The Sandiego PLSD is a slightly milder disease than TD but is associated with mutations in the FGFR3 gene. Torrance–Luton is a milder disease, sometimes associated with long-term survival, and due to a mutation in the type II collage gene (COL2A1).7, 8

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  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Thanatophoric dysplasia, type I. J Perinatol 32, 476–478 (2012). https://doi.org/10.1038/jp.2011.108

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