[Fatal nanism: 3 different entities]
- PMID: 2069281
[Fatal nanism: 3 different entities]
Abstract
Three cases of congenital dwarfism are presented. All of them are lethal and represent the three better known nonviable nosologic entities: Achondrogenesis I, Achondrogesis II and Thanatophoric dwarfism. According to clinical features and radiologic data it is possible to approach the diagnosis accurately. We comment genetic, clinic, radiologic and histologic aspects of these processes. It is important to establish a differential diagnosis as these entities have different genetic basis, what influences genetic counsel.
Similar articles
-
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.Am J Med Genet. 1996 May 3;63(1):148-54. doi: 10.1002/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8723101
-
Achondrogenesis: new nosology with evidence of genetic heterogeneity.Radiology. 1983 Sep;148(3):693-8. doi: 10.1148/radiology.148.3.6878687. Radiology. 1983. PMID: 6878687
-
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.J Med Genet. 2004 Jan;41(1):75-9. doi: 10.1136/jmg.2003.013722. J Med Genet. 2004. PMID: 14729840 Free PMC article. No abstract available.
-
[Thanatophoric dwarfism. A anatomo-clinical case].Ann Pediatr (Paris). 1976 Oct 2;23(10):633-7. Ann Pediatr (Paris). 1976. PMID: 16106891 Review. French. No abstract available.
-
The genetic basis of the osteochondrodysplasias.J Pediatr Orthop. 2000 Sep-Oct;20(5):594-605. doi: 10.1097/00004694-200009000-00010. J Pediatr Orthop. 2000. PMID: 11008738 Review.