1.
Cleft Palate Craniofac J
; 39(2): 246-8, 2002 Mar.
Article
in English
| MEDLINE
| ID: mdl-11879084
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.