A hypoplastic patella fracture in nail patella syndrome: a case report
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چکیده
منابع مشابه
A hypoplastic patella fracture in nail patella syndrome: a case report
INTRODUCTION Nail patella syndrome is a rare autosomal dominant hereditary condition, with an incidence of 22 per million in the United Kingdom. The syndrome's most common features include iliac horns, hypoplastic patella and nail dysplasia. CASE PRESENTATION We report the case of a 26-year-old Caucasian man with nail patella syndrome who sustained a fracture of his right hypoplastic patella ...
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The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb mov...
متن کاملNail-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...
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ژورنال
عنوان ژورنال: Journal of Medical Case Reports
سال: 2012
ISSN: 1752-1947
DOI: 10.1186/1752-1947-6-196