Akgün-Doğan Özlem, Şimsek-Kiper Pelin Özlem, Utine Gülen Eda, Boduroğlu Koray
Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2018;60(1):89-93. 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.
阿克居恩 - 多安·厄，西姆塞克 - 基佩尔·波，乌蒂内·格，博杜罗卢·凯。生长迟缓性发育不良：一种罕见的临床病症。《土耳其儿科学杂志》2018年；60: 89 - 93。软骨毛发发育不全和生长迟缓性发育不良谱系构成一组常染色体隐性疾病，其特征为干骺端至脊椎干骺端受累程度各异以及各种其他临床特征。在这一组疾病中，生长迟缓性发育不良代表骨骼谱系的严重一端。然而，尽管骨骼受累严重，但不存在包括免疫缺陷、血液学异常和毛发发育不全在内的骨骼外特征。这种病症由编码核糖核酸酶线粒体RNA加工复合体的基因突变引起。我们在此报告一例生长迟缓性发育不良患者，该患者表现为严重旋转性脊柱侧弯及需要手术干预的骨骼表现，并且检测到纯合子RMRP突变。
