Abstract

DURO, Eduardo Alfredo  and  PICCONE, Elizabeth. Displasia diastrófica: un raro tipo de osteocondrodisplasia. Arch. argent. pediatr. [online]. 2007, vol.105, n.2, pp.143-146. ISSN 0325-0075.

Introduction. Diastrophic dysplasia is a type of osteochondrodysplasia, a rare genetic autosomic recessive disease which present itself every half a million births. Patient. A newborn female with a diastrophic dysplasia diagnosis made immediately after birth. Conclusions. A simple X-rays study allows to diagnose this disease as well as to give corrects parental counseling.

Keywords : Short stature; dwarfism; Osteochondrodysplasia; Diastrophic dysplasia; Diastrophic dwarfism.

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