Case Report June 10, 2026 June 10, 2026

Unilateral buphthalmos in a patient with short stature: a rare case of dual recessive disorders

DOI: 10.37039/1982.8551.20260053

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 and cartilage-hair hypoplasia in a Brazilian male child. The patient underwent surgical management for primary congenital glaucoma before one year of age, but molecular diagnosis was delayed until eight years of age during an osteochondrodysplasia evaluation. This case underscores the utility of next-generation sequencing in identifying atypical phenotypes and multiple genotypes within a single patient. The presence of two autosomal recessive conditions highlights the importance of comprehensive genetic testing for accurate diagnosis, early clinical intervention, and informed genetic counseling. Families with such conditions should be counseled on the potential for four distinct genotype combinations in future offspring, emphasizing the need for tailored genetic and clinical management strategies.