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Pediatr Dermatol. 2010 Jan-Feb;27(1):95-7. doi: 10.1111/j.1525-1470.2009.01051.x.

Nail-patella syndrome with an emphasis on the risk of renal and ocular findings.

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  • 1Princess of Wales Hospital, Bridgend CF31 1RQ, UK. sandeep.kamath@bromor-tr.wales.nhs.uk

Abstract

We describe a 6-year-old girl presenting with nail dysplasia affecting all nails and hands for 2 years. Changes were seen on the ulnar side of the nails. She was assessed for limitation of elbow movements at 3 weeks of age and underwent physiotherapy for thickened biceps tendon. She subsequently developed laxity of knees and ankles, and x-ray revealed absent patellae at 32 weeks. She had behavioral abnormalities and sleep disturbances. X-ray of the pelvis revealed iliac horns, and urinalysis showed 3+ proteinuria. She had mixed hyperlipidemia. Her chromosomal analysis was normal but showed a mutation in the LMX1B gene. She was diagnosed to have Nail-patella syndrome or Hereditary osteo-onychodysplasia (HOOD Syndrome). Her renal imaging was normal, as were her ocular pressures. She is under regular surveillance by a multi-disciplinary team of genetic counselors, orthopedists, rheumatologists and ophthalmologists. She is currently prescribed enalapril, melatonin and simvastatin.

PMID:
20199424
[PubMed - indexed for MEDLINE]
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