Literature DB >> 21149903

Dyggve melchior clausen syndrome.

V Gupta1, A Kohli, V Dewan.   

Abstract

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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Year:  2010        PMID: 21149903     DOI: 10.1007/s13312-010-0151-x

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN: 0019-6061            Impact factor:   1.411


  1 in total

1.  Pelvic radiograph in skeletal dysplasias: An approach.

Authors:  Manisha Jana; Nikhil Nair; Arun K Gupta; Madhulika Kabra; Neerja Gupta
Journal:  Indian J Radiol Imaging       Date:  2017 Apr-Jun
  1 in total

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