A SEX-LIMITING MODIFYING GENE IN DIAPHYSIAL ACLASIS (MULTIPLE EXOSTOSES)

A Case of Diaphysial Aclasis

By P. N. RAY, b.a., m.b., f.r.c.s. (Eng.) (Surgeon, Ccirmichael Medical College Hospitals, and Additional Surgeon, General Hospital, Howrah) This rare condition is known under a multiplicity of names, e.g., multiple cartilaginous exostoses, hereditary multiple exostoses, etc. The patient, a Hindu male child aged 12, complained of swelling around both the knees and the left ankle with hard nodul...

A Further Case of Diaphysial Aclasis, (Multiple Exostosis) with a Marked Family History

In the Indian Mcdical Gazette of January 1929, we reported seven cases of diaphysial aclasis (multiple exostosis) in Indians, including four cases from one family. The present case showed an even more marked family history, there being some 10 cases amongst 26 close relatives. Hasan Mohamed Khan, aged 45, was admitted into King George's Medical College Hospital, Lucknow, in January 1929, for ln...

Seven Cases of Diaphysial Aclasis (Multiple Exostosis) in Indians, Including Four Cases from One Family

Positional cloning of a gene involved in hereditary multiple exostoses.

Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different EXT loci on chromosomes 8q (EXT1), 11p (EXT2) and 19p (EXT3) have been reported, and recently the EXT1 gene was identified by positional cloning. To isolate the EXT2 g...

Multiple Rib Exostoses in a Boy: A Rare CaseResulting in Surgery Secondary to Cosmetic Concerns

A seven year-old boy with several painless masses on the ribs and shoulder was referred to our hospital. The masses were so prominent that they prevented the child’s sleep. Since the patient had been ridiculed by his friends due to the rib prominences, he had refused to attend school. After clinical and radiological evaluations, the masses were diagnosed as hereditary multiple exostoses of the ...