Japanese siblings with cartilage‐hair hypoplasia exhibiting different severity.

The article presents a case study of two siblings diagnosed with cartilage-hair hypoplasia (CHH) through newborn screening for severe combined immunodeficiency (SCID) followed by next-generation sequencing (NGS). It is reported that CHH is a rare disorder characterized by skeletal dysplasia, short stature, hair hypoplasia, immunodeficiency, and an increased risk of various conditions.