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.
OBJECTIVE: A long-surviving thanatophoric dysplasia type Ipatient 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.
Authors: Ricki S Carroll; Angela L Duker; Andrea J Schelhaas; Mary Ellen Little; Elissa G Miller; Michael B Bober Journal: Palliat Med Rep Date: 2020-05-14