Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: expanding the clinical spectrum

ABSTRACT

Peters anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs involving the central or entire cornea. It may be associated with other ocular or systemic abnormalities. Peters Plus syndrome, also known as Krause-Kivlin syndrome, characterized by additional anomalies including short stature with developmental delay, facial dysmorphism, genitourinary abnormalities; syndactyly; brachycephaly; and cardiac, neural, and hearing abnormalities. Here we report an 8 month old boy with typical features of Peters Plus syndrome including eye anomalies, dysmorphic features, global developmental delay, growth retardation, bilateral talipes equinovarus, complex renal anomalies, absent anal canal, sacral agenesis and sensorineural hearing loss. To our knowledge, the last three features were not reported before