Nail-patella syndrome with an emphasis on the risk of renal and ocular findings.
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.
Kamath
Sandeep
S
Princess of Wales Hospital, Bridgend CF31 1RQ, UK. sandeep.kamath@bromor-tr.wales.nhs.uk
Bhagwandas
Krishnan
K
D002648:Child; D005128:Eye Diseases / Q000453:epidemiology*; D005260:Female; D006801:Humans; D006949:Hyperlipidemias / Q000453:epidemiology; D007674:Kidney Diseases / Q000453:epidemiology*; D009261:Nail-Patella Syndrome / Q000453:epidemiology* / Q000473:pathology; D009262:Nails / Q000473:pathology*; D010329:Patella / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D012307:Risk Factors