title: Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.
abstract: 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.
authors.affiliation: Unit of Perinatal Physiology, Department of Obstetrics, University Hospital, Zurich, Switzerland. nicole.koeble@fhk.usz.ch
authors.forename: N
authors.initials: N
authors.lastname: Kölble
authors.forename: D
authors.initials: D
authors.lastname: Sobetzko
authors.forename: J
authors.initials: J
authors.lastname: Ersch
authors.forename: T
authors.initials: T
authors.lastname: Stallmach
authors.forename: G
authors.initials: G
authors.lastname: Eich
authors.forename: R
authors.initials: R
authors.lastname: Huch
authors.forename: A
authors.initials: A
authors.lastname: Huch
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: J
authors.initials: J
authors.lastname: Wisser
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D051518:Fibroblast Growth Factor 3; D005346:Fibroblast Growth Factors; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011518:Proto-Oncogene Proteins; D017978:Receptors, Growth Factor / Q000235:genetics; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging* / Q000235:genetics; D016216:Ultrasonography, Prenatal
chemical_list: C496444:FGF3 protein, human; D051518:Fibroblast Growth Factor 3; D011518:Proto-Oncogene Proteins; D017978:Receptors, Growth Factor; D005346:Fibroblast Growth Factors