Refractive errors and strabismus in children with Ddown syndrome: a controlled study.

Purpose: To evaluate the prevalence of refractive errors, strabismus, nystagmus, and congenital cataract in children with Down syndrome and control subjects of similar age.

Methods: Seventy-seven children with Down syndrome and 151 control subjects were evaluated for the prevalence of ocular findings.

Results: Ocular findings were discovered in 97.

Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.

Introduction: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B whose product acts in intracellular trafficking. It exhibits wide clinical variability. Arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia define an ARC core phenotype, in some patients associated with ichthyosis, central nervous system malformation, deafness, and platelet abnormalities.