Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.

Abstract excerpt

RATIONALE: Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the RMRP gene, which is extremely rare in the population, and its most common feature is disproportionately short limb shortness with short and thickened long bones, usually found in newborns, occasionally found in the prenatal stage, and other clinical features include a series...

Topics

• Humans
• Male
• Hair
• Infant
• Osteochondrodysplasias
• Heterozygote
• Hirschsprung Disease
• Mutation
• Ectodermal Dysplasia
• Exome Sequencing
• Dwarfism
• Primary Immunodeficiency Diseases