PMID: 9182787Jun 27, 1997Paper

Long-term survival in typical thanatophoric dysplasia type 1

American Journal of Medical Genetics
K M BakerR M Pauli

Abstract

Thanatophoric dysplasia (TD), a severe skeletal dysplasia, is virtually always lethal neonatally, although a few previous reports have documented survival up to 4.75 years. We present a patient with survival beyond age 9 years and summarize his growth, development and medical history. The common Arg248Cys mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3) was identified, eliminating the possibility that his long-term survival is attributable to an atypical mutation. This patient (and at least one other TD long-term survivor) have a rare skin disorder, acanthosis nigricans, which also occurs in Crouzon syndrome when caused by a FGFR3 mutation. Therefore, any molecular model of the origin of acanthosis nigricans secondary to FGFR3 mutations must account for the association of diverse mutations and these cutaneous effects.

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Citations

Jul 19, 2008·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Manjiri DigheTheodore Dubinsky
Jul 15, 2006·The Journal of Clinical Investigation·Christian HafnerArndt Hartmann
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