Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia.

Short stature is the most common reason for endocrinological investigations during childhood. With the expanding spectrum of recognized genetic causes for abnormal growth, establishing the correct diagnosis is often challenging. We present a 12-year-old girl who was first evaluated for short stature (<3rd percentile) and short fingers at age 2 years. Skeletal radiographs showed mild long bone metaphyseal abnormalities. She had slightly thin hair, unilateral elbow dislocations, and genu varum but no hematologic abnormalities or signs of immunodeficiency. Growth hormone testing and other endocrine investigations were normal. At age 12 years, when her height was -3.0 SD score, skeletal dysplasia was considered, and genetic testing revealed compound heterozygosity for 2 RMRP variants (n.97_98dup and n.-25_-12dup), confirming the diagnosis of cartilage-hair hypoplasia (CHH), a recessive skeletal dysplasia. Retrospective review of early radiographs showed that diagnostic features were present already at the first assessment. The described patient is the first reported case of CHH in Greece. The delayed diagnosis led to several unnecessary investigations. This case highlights the importance of considering skeletal dysplasia in children with short stature. Early diagnosis of CHH is important for careful follow-up because of increased risk for immunodeficiency and malignancies.