Growth in Thanatophoric Dysplasia

  • Elka Miller
  • Elysa Widjaja


Skeletal dysplasias are a complex group of disorders that are characterized by generalized abnormalities of the development of the skeletal growth. The majority of them result from a mutated gene. The bony presentation is characterized by abnormal growth of the limbs, absence of a limb, duplication of fingers or toes, or many other different bone abnormalities. They occur in approximately 1 in 4,000 births and the mode of inheritance is variable, either sporadic (not inherited) or hereditary (recessive or dominant). The understanding of these dysplasias can guide the family for a better genetic council in pregnancy and in future family planning. Thanatophoric dysplasia (TD) is the most common of the lethal skeletal dysplasias, caused by different mutations of fibroblast growth factor receptor 3 (FGFR3) gene. It is one of the short-limb dysplasia and has been classified into two different types, type I and type II, that have a diverse range of phenotypes and genotypes, with the most common difference being the presence of cloverleaf skull in TD type II. Early diagnosis, ideally in utero, is critical because the condition leads to death in utero or shortly after birth. The purpose of this review is to describe the clinical, radiologic, pathologic, and molecular features of TD and newer advances in the different fields that involve this entity.


Skeletal Dysplasia Acanthosis Nigricans Nuchal Translucency Fibroblast Growth Factor Signaling Fibroblast Growth Factor Family 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Fibroblast growth factor


Fibroblast growth factor (FGF) receptor 3 gene


Magnetic resonance imaging


Platyspondylic lethal skeletal dysplasia


Platyspondylic lethal skeletal dysplasia, San Diego type


Platyspondylic lethal skeletal dysplasia, Torrance type

SADDAN dysplasia

Severe achondroplasia with developmental delay and acanthosis nigricans


Thanatophoric dysplasia


Thanatophoric dysplasia type I


Thanatophoric dysplasia type II



We would like to thank Dr. Patrick Shanon for the postmortem brain images, Department of Pathology, Mount Sinai Hospital Toronto, Canada


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of Diagnostic ImagingChildren’s Hospital of Eastern Ontario (CHEO)OttawaCanada
  2. 2.Department of Diagnostic ImagingThe Hospital for Sick ChildrenTorontoCanada

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