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ISSN 2007-087X (Print)
Órgano Oficial de la Sociedad Mexicana de Ortopedia Pediátrica

2010, Number 1

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Rev Mex Ortop Ped 2010; 12 (1)

Síndrome de Dyggve-Melchior-Clausen, evolución de un caso y revisión de la literatura

Téllez BKC, Cortés GJ

Language: Spanish
References: 63
Page: 53-58
PDF size: 226.00 Kb.


ABSTRACT

The syndrome of Dyggve-Melchior-Clausen (DMC) is a disease of low incidence with recessive autosomic inheritance, produced by mutations in the recently identified gene Dymeclin. A clinical case of a male patient one of 16 years with postnatal, platiespondilea dysmorphism is reported and displasia epifisiary and metafisiary, evaluating his clinical course, mental imparment, biochemical tests and X-ray findings we oriented ourselves to the DMC diagnosis. It is important to know the organization that can be confused with the disease of Morquio. Then until the moment it is lacked a specific biochemical marker.
Level of evidence: IV


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