HUM-MOLGEN DIAGnostics/Clinical Research

21 April 1997

Camurati-Engelmann disease

A 31-year-old patient affected by Progressive Diaphyseal Dysplasia (Camurati-Engelmann disease) asked me, as medical geneticist, about the present state-of-the art of our knowledge on the molecular genetics of this disease. In particular, he and his relatives (there are at least two other affected relatives) are willing to send their blood to a laboratory involved in the mapping the PDD gene.

He would like to have a baby and is looking for a prenatal test.

I would be very glad to know who is presently working on the genomic mapping of Camurati-Engelmann disease.

Nicola Migone

Associate prof. of Medical Genetics,

Dipartimento di Genetica, Biologia e Chimica Medica,

Università di Torino,

Via Santena 19

10126 Torino, Italy

fax: +39-11-674040.