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Boletín Médico del Hospital Infantil de México

2005, Number 5

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Bol Med Hosp Infant Mex 2005; 62 (5)

Multiple hereditary exostoses and Down’s syndrome.

Gómez-Valencia L, Morales-Hernández A, Salomón-Cruz J, Berttolini-Díaz AJ, Cornelio-García RM, Toledo-Ocampo E

Language: Spanish
References: 14
Page: 356-361
PDF size: 140.24 Kb.


ABSTRACT

Introduction. Multiple hereditary exostoses is an autosomal dominant disorder characterized by multiple osteochondromas, fundamentally in bones of the extremities, and in which they have been described like the associates the syndrome of Langer Giedion, the acute myeloid leukemia and the ankylosing spondylitis. Objective: to describe the case of 10-year-old boy in which coexist multiple hereditary exostoses and Down’s syndrome. Case report. Male patient with greater apparent age to the real one, brachycephaly, up slanting palpebral fissures, low nasal bridge, mental deficiency, and tumors presence of approximate 3 x 2 cm, located in extremities waist scapular and pelvic, with failing march and complement chromosomal of 47, XY, + 21.
Conclusion. We report appears to be the first case of Down’s syndrome with the coexistence of multiple exostoses.


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