Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria

Cleft Palate Craniofac J. 2002 Mar;39(2):246-8. doi: 10.1597/1545-1569_2002_039_0246_cabfoa_2.0.co_2.

Abstract

Objective: A long-surviving thanatophoric dysplasia type I patient to age of 6 years is presented.

Results and conclusions: Molecular studies revealed a heterozygous point mutation, S249C in the fibroblast growth factor receptor 3 gene. Most of the clinical course was similar to previous reports, including hearing loss and acanthosis nigricans. Abnormal urinary excretion of dicarboxylic acids and 3-hydroxydicarboxylic acids was observed. We hypothesize that this was a consequence of the FGFR3 mutation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acanthosis Nigricans / etiology
  • Carboxylic Acids / urine
  • Child
  • Dicarboxylic Acids / urine*
  • Fibroblast Growth Factors / genetics
  • Follow-Up Studies
  • Hearing Loss, Sensorineural / etiology
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Point Mutation / genetics
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics
  • Thanatophoric Dysplasia / classification
  • Thanatophoric Dysplasia / genetics
  • Thanatophoric Dysplasia / urine*

Substances

  • Carboxylic Acids
  • Dicarboxylic Acids
  • Receptors, Fibroblast Growth Factor
  • Fibroblast Growth Factors
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3