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The manifestations of cartilage‐hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by
RMRP
mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (−1.6 SDS at 11 years) who was diagnosed with CHH at 14 years.
RMRP
sequencing revealed...