Journal article
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.
- Kölble N Unit of Perinatal Physiology, Department of Obstetrics, University Hospital, Zurich, Switzerland. nicole.koeble@fhk.usz.ch
- Sobetzko D
- Ersch J
- Stallmach T
- Eich G
- Huch R
- Huch A
- Superti-Furga A
- Wisser J
- 2002-02-20
Published in:
- Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - 2002
Adult
Female
Fetal Diseases
Fibroblast Growth Factor 3
Fibroblast Growth Factors
Humans
Mutation
Pregnancy
Proto-Oncogene Proteins
Receptors, Growth Factor
Thanatophoric Dysplasia
Ultrasonography, Prenatal
English
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.
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1046/j.0960-7692.2001.00496.x
- PMID 11851976
- Persistent URL
- https://sonar.ch/global/documents/163263
Statistics
Document views: 10
File downloads: