Rev Chil Pediatr 2018 Feb;89(1):107-112
Unidad de Endocrinología Pediátrica, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.
Background: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. Read More