The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

ABSTRACT: The spectrum of peroxisomal disorders is wide and comprises individuals that die in the first year of life, as well as people with sensorineural hearing loss, retinal dystrophy and amelogenesis imperfecta. In this article, we describe three patients; two diagnosed with Heimler syndrome and a third one with a mild-intermediate phenotype. We arrived at these diagnoses by conducting complete ophthalmic (National Eye Institute), auditory (National Institute of Deafness and Other Communication Disorders), and dental (National Institute of Dental and Craniofacial Research) evaluations, as well as laboratory and genetic testing. Retinal degeneration with macular cystic changes, amelogenesis imperfecta, and sensorineural hearing loss were features shared by the three patients. Patients A and C had

SUBMITTER: Daich Varela M 

PROVIDER: S-EPMC8117942 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature