"Less common phenotypic findings include camptodactyly of finger(s), telecanthus, wide nasal bridge and downturned corners of mouth 2. Nephropathy can also occur which can lead to end-stage renal failure 3."
"Multicentric carpal tarsal osteolysis syndrome is inherited in an autosomal dominant fashion with complete penetrance. It is caused by mutations in the MAFB (MAF BZIP transcription factor B) gene 2."
"Multicentric carpal tarsal osteolysis syndrome is inherited in an autosomal dominant fashion with complete penetrance. It is caused by mutations in the MAFB (MAF BZIP transcription factor B) gene 2."
"Gorham osteolysis"
"Multicentric carpal tarsal osteolysis is a rare skeletal disorder which is characterised by progressive osteolysis of the carpal, metacarpal and tarsal bones. It usually presents in early childhood with progressive pain and stiffness of the wrist, feet and elbow, clinically mimicking juvenile rheumatoid arthritis. This leads to joint deformities and is also often associated with chronic renal failure."
"Multicentric carpal tarsal osteolysis is a rare skeletal disorder which is characterised by progressive osteolysis of the carpal, metacarpal and tarsal bones. It usually presents in early childhood with progressive pain and stiffness of the wrist, feet and elbow, clinically mimicking juvenile rheumatoid arthritis. This leads to joint deformities and is also often associated with chronic renal failure."