Nail patella syndrome, also known as hereditary osteo-onychodysplasia, is an autosomal dominant disorder characterized by hypoplastic or absent patellae; dysplastic, hypoplastic, or absent thumb nails; iliac horns; and elbow abnormalities.1 Nephropathy is a known association2 and may be a cause of death.
There has been no reported association of hearing loss with this condition. We present a family with nail patella syndrome where such an association may be present.
Report of a Case.
This patient was one of five offspring of the nonconsanguineous marriage of two white individuals. She was first seen in 1965 at the age of 6 months with bilateral acute otitis media that resolved with conservative treatment. Her hearing was believed to be normal. By 1973 she had developed characteristic features of the nail patella syndrome. In 1975, at the age of 11 years, a left sensorineural hearing loss was noted (Figure). Examination of the
Hussain SSM, Hope GA. Sensorineural Hearing Loss and Nail Patella Syndrome. Arch Otolaryngol Head Neck Surg. 1994;120(6):674–675. doi:10.1001/archotol.1994.01880300088016
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: