Anauxetic dysplasia: A rare clinical entity


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Akgun-Dogan Ö. , Simsek-Kiper P. O. , ÜTİNE G. E. , BODUROĞLU O. K.

TURKISH JOURNAL OF PEDIATRICS, vol.60, no.1, pp.89-93, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 60 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.24953/turkjped.2018.01.014
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.89-93

Abstract

Cartilage hair hypoplasia and anauxetic dysplasia spectrum constitute a group of autosomal recessive disorders characterized by variable extent of metaphyseal to spondylometaepiphyseal involvement and various additional clinical features. Within this group, anauxetic dysplasia represents the severe end of the skeletal spectrum. However, extraskeletal features including immunodeficiency, hematological abnormalities, and hair hypoplasia are absent, despite the severe skeletal involvement. This disorder is caused by mutations in the gene encoding ribonuclease mitochondrial RNA-processing complex. We herein report on a patient with anauxetic dysplasia, who presented with severe roto-scoliosis and skeletal findings requiring surgical intervention, and in whom a homozygous RMRP mutation was detected.