Title |
Osteocondromatosis múltiple hereditaria en una familia
|
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Published in |
Boletín Médico del Hospital Infantil de México, February 2016
|
DOI | 10.1016/j.bmhimx.2015.11.008 |
Pubmed ID | |
Authors |
Jesús Santos-Guzmán, Consuelo Cantú-Reyna, Ignacio Cano-Muñoz, Ana Karen Pulido-Ayala, Adrián García |
Abstract |
Multiple hereditary osteochondromatosis is characterized by the growing of benign cartilaginous tumors in form of exostosis, predominately in the metaphysis of long bones. It is described with a prevalence of 1/50,000 individuals. This article presents the clinical information and its autosomal dominant inheritance pattern where exotoxin genes (EXT gene family) were affected in a three-member family with multiple hereditary osteochondromatosis. The three patients showed altered arcs of movement of wrists, shoulders and ankles. Clinical diagnosis was confirmed with radiology and malignancy was ruled out in all patients. This disease requires frequent medical evaluation, surgical bone correction when the normal function is involved, surveillance for malignant transformation, and genetic counseling. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 22 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 5 | 23% |
Student > Postgraduate | 2 | 9% |
Student > Doctoral Student | 2 | 9% |
Unspecified | 1 | 5% |
Student > Master | 1 | 5% |
Other | 1 | 5% |
Unknown | 10 | 45% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 8 | 36% |
Nursing and Health Professions | 2 | 9% |
Neuroscience | 1 | 5% |
Unspecified | 1 | 5% |
Unknown | 10 | 45% |