The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2002
Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Okajima Kazuki, Asai Kiyofumi, Niwa Toshimitsu, Ohki Shigeru, Sobajima Hisanori, Tyson Jess, Malcolm Sue, Wada Yoshiro
Аннотация
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.
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.
Предметные рубрики MeSH
Acanthosis NigricansCarboxylic AcidsChildDicarboxylic AcidsFibroblast Growth FactorsFollow-Up StudiesHearing Loss, SensorineuralHeterozygoteHumansInfantInfant, NewbornMalePoint MutationProtein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 3Receptors, Fibroblast Growth FactorThanatophoric Dysplasia