Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.
OBJECTIVE
A long-surviving thanatophoric dysplasia type I patient to age of 6 years is presented.


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.
Okajima
Kazuki
K
Clinical and Molecular Genetics Unit, Institute of Child Health, London, United Kingdom. kokajima@ich.ucl.ac.uk.
Asai
Kiyofumi
K
Niwa
Toshimitsu
T
Ohki
Shigeru
S
Sobajima
Hisanori
H
Tyson
Jess
J
Malcolm
Sue
S
Wada
Yoshiro
Y
D000052:Acanthosis Nigricans / Q000209:etiology; D002264:Carboxylic Acids / Q000652:urine; D002648:Child; D003998:Dicarboxylic Acids / Q000652:urine*; D005346:Fibroblast Growth Factors / Q000235:genetics; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation / Q000235:genetics; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013796:Thanatophoric Dysplasia / Q000145:classification / Q000235:genetics / Q000652:urine*
D002264:Carboxylic Acids; D003998:Dicarboxylic Acids; D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3