منابع مشابه
Nail-patella syndrome
Keywords Disease name and synonyms Definition Incidence Clinical description Treatment Etiology Diagnostic methods Antenatal diagnosis References Abstract Nail patella syndrome or hereditary osteo-onychodysplasia is an autosomal dominant disorder defined by the association of nail dysplasia, bone anomalies and renal disease. In addition to nail dysplasia, the patellas are hypoplastic or absent,...
متن کاملNail-Patella Syndrome
Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIMhomeodomain family, members of which are known to be important for pattern formation during devel...
متن کاملImaging of nail-patella syndrome.
Nail-patella syndrome is a rare disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia or Fong's syndrome. Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic. In this report, we describe the appearance, location, and structure of iliac horns with respect to radiography and magnetic res...
متن کاملArthropathy and proteinuria: nail-patella syndrome revisited
Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals. Although diagnosis can be made at birth, it is often...
متن کاملClinico-Genetic Study of Nail-Patella Syndrome
Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma. NPS is caused by loss-of-function mutations in the LMX1B gene. In this study, phenotype-genotype correlation was analyzed in 9 unrelated Korean children with NPS and their affecte...
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ژورنال
عنوان ژورنال: Indian Journal of Transplantation
سال: 2016
ISSN: 2212-0017
DOI: 10.1016/j.ijt.2016.09.075