ABSTRACT Bupthalmos is characterized by congenital enlargement of the eyeball due to uncontrolled glaucoma in early childhood, which is mostly caused by primary congenital glaucoma. Primary congenital glaucoma, the leading cause of childhood glaucoma, is typically inherited in an autosomal recessive manner and is a significant contributor to pediatric blindness. In contrast, cartilage-hair hypoplasia, another autosomal recessive disorder, presents with disproportionate short stature, increased malignancy risk, and immunological complications. This case report describes a rare co-occurrence of primary congenital glaucoma […]