Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.
Ultrasound In Obstetrics and Gynecology
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Skeletal dysplasias, a heterogeneous group of bone growth disorders, can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management. In order to specify diagnosis, radiological, pathological and molecular genetic examination are often required. Our report describes two cases of thanatophoric dysplasia with different fetal sonographic findings. The classical classification of type I and II seems to be ambiguous as, in both cases, the same mutation in the fibroblast growth factor receptor 3 gene was found. The importance of comprehensive multidisciplinary assessment is emphasized.
Adult, Female, Fetal Diseases/genetics, Fetal Diseases/ultrasonography, Fibroblast Growth Factor 3, Fibroblast Growth Factors, Humans, Mutation, Pregnancy, Proto-Oncogene Proteins, Receptors, Growth Factor/genetics, Thanatophoric Dysplasia/genetics, Thanatophoric Dysplasia/ultrasonography, Ultrasonography, Prenatal
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