The Turkish Journal of Pediatrics 2018 , Vol 60 , Num 1
Anauxetic dysplasia: A rare clinical entity
Özlem Akgün-Doğan 1 ,Pelin Özlem Şimsek-Kiper 1 ,Gülen Eda Utine 1 ,Koray Boduroğlu 1
1 Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey DOI : 10.24953/turkjped.2018.01.014 Akgün-Doğan Ö, Şimsek-Kiper PÖ, Utine GE, Boduroğlu K. Anauxetic dysplasia: A rare clinical entity. Turk J Pediatr 2018; 60: 89-93.

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. Keywords : anauxetic dysplasia, metaphyseal dysplasia, autosomal recessive, scoliosis

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