Synopsis
cartilagenous tumours (bone, trachea)
- multiple osteochondromas(osteochondromatosis)
- chondrosarcoma
asymmetric tubular bone abnormality
ovarian juvenile granulosa cell tumor (precocious pseudopuberty)
Types
Ollier disease
Maffucci disease
Etiology:
mutation in the PTH/PTHRP type I receptor (PTHR1; MIM.168468). The PTHR1 gene encodes a receptor for both parathyroid hormone (MIM.168450) and parathyroid hormone-related protein (MIM.168470)