A 29-year-old multipara presented at the University Hospital, Kuala Lumpur at 26 weeks gestation. She has had two normal deliveries at this hospital, a girl in 1977 and a boy in 1978. Both children are normal and healthy. In this third pregnancy uterine size was larger than dates and hydramnios was suspected. Sonography confirmed the hydramnios and showed a single foetus with hydrocephalus and ...

A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia.

involves the fibroblast growth-factor receptor 3 gene. Blood 10:4062, 1997 9. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321, 1995 10. Caligaris-Cappio F, Bergui L, Gregoretti MG, Gaidano G, Gaboli M, Schena...

Gain-of-function mutations in fibroblast growth factor receptor-3 (FGFR3) lead to several types of human skeletal dysplasia syndromes including achondroplasia, hypochondroplasia and thanatophoric dysplasia (TD). Currently, there are no effective treatments for these skeletal dysplasia diseases. In this study, we screened, using FGFR3 as a bait, a random 12-peptide phage library and obtained 23 ...