Search
platyspondylic lethal skeletal dysplasia (PLSD-SD)
Genetics:
- associated with defects in FGFR3
Clinical manifestations:
- postnatal growth deficiency
- mild developmental delay
- short trunk
- craniofacial abnormalities
- platyspondyly
- delayed ossification
- generalized osteoporosis
- thin ribs
General
platyspondylic lethal skeletal dysplasia (PLSD)
References
UniProt :accession P22607