JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE) ›› 2021, Vol. 41 ›› Issue (2): 280-284.doi: 10.3969/j.issn.1674-8115.2021.02.026

• Case report • Previous Articles    

Clinical and genetic analysis of one case of cartilage-hair hypoplasia

Yi YANG(), Wen-jun JIANG, Hui-wen ZHANG()   

  1. Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
  • Received:2020-04-30 Online:2021-02-28 Published:2021-02-28
  • Contact: Hui-wen ZHANG;
  • Supported by:
    Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support(20152520)


The main symptom of a female pediatric patient was severely short stature. Ultrasound examinations during pregnancy showed that the limbs were short. The patient was characterized by sparse, fine, and silky hair and prenatal onset of disproportionate short-limb short stature. Radiographic findings showed metaphyseal dysplasia with epiphyseal in terminal femur and proximal tibia. Whole exon sequencing of DNA from peripheral blood was negative. However, sanger sequencing confirmed that the patient had carried g.181G→A/g.255C→T compound heterozygous variants of RNA component of mitochondrial RNA processing endoribonuclease (RMRP) gene, which is a non-coding RNA in human genome. The g.255C→T was a novel mutation. The clinical manifestations of cartilage-hair hypoplasia (CHH) are complex and typical symptoms can help diagnose the disease. CHH should be considered as a differential disease when whole exon sequencing was negative in patients with suspected bone disease. Sanger sequencing test can help confirm the diagnosis, contributing to evaluating the prognosis and prenatal diagnosis. Discovery of the novel variants has enriched the variant spectrum of CHH.

Key words: cartilage-hair hypoplasia, RMRP gene, short-limb short stature, metaphyseal dysplasia

CLC Number: