Dyggve melchior clausen syndrome.

نویسندگان

  • V Gupta
  • A Kohli
  • V Dewan
چکیده

Dyggve Melchior Clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo epi metaphyseal dysplasia associated with mental retardation. The clinical and radiological findings resembles Morquio disease at the onset of condition, which may hinder its diagnosis. Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported.

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Dyggve-Melchior-Clausen syndrome.

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Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia) (SM) has clinical and radiographic findings similar to those of Dyggve-Melchior-Clausen syndrome (DMC) except for mental retardation. Iliac crest biopsies from two patients with SM were examined. The lace-like appearance of the iliac crests, which is a characteristic radiological sign of SM and DMC, was caused ...

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Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

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عنوان ژورنال:
  • Indian pediatrics

دوره 47 11  شماره 

صفحات  -

تاریخ انتشار 2010