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Diagnosing nail-patella syndrome: can it be so simple?
  1. Rohit Sasidharan1,
  2. Neeraj Gupta1,
  3. Nisha Toteja2 and
  4. Bharti Yadav1
  1. 1Neonatology, All India Institute of Medical Sciences Jodphur, Jodhpur, Rajasthan, India
  2. 2Pediatrics, All India Institute of Medical Sciences Gorakhpur, Gorakhpur, Uttar Pradesh, India
  1. Correspondence to Dr Neeraj Gupta; neerajpgi{at}yahoo.co.in

Abstract

We describe here an interesting case of a 7-day-old male infant brought with parental concerns of inability to extend both knees. Clinical evaluation revealed dysplastic fingernails, bilateral abnormal patellae, triangular lunules in conjunction with pathognomic iliac horns on pelvic radiographs suggesting the possibility of nail-patella syndrome (NPS). Other competing diagnoses with similar phenotypic features were considered and sequentially excluded. A definitive diagnosis was established by the identification of the principal mutation at the LMX1B gene locus of chromosome 9. NPS is seldom diagnosed in neonates due to the heterogeneity of clinical presentations as well as the subtlety of clinical clues in this population. NPS is a dominantly inherited disorder that is predominantly familial in origin and thus carries important implications for the prenatal diagnosis of future pregnancies as well as pre-emptive surveillance of nephropathy in the index child.

  • genetics
  • orthopaedics
  • radiology
  • neonatal health

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Footnotes

  • Contributors All authors have approved the manuscript and this submission. All authors were involved in the diagnosis and the management of the patient within this report. RS was the lead author who was in charge of data collection, literature review and drafted the initial manuscript. NG critically reviewed and revised the manuscript for important intellectual content. NT and BY helped in the literature review and drafting of the initial manuscript. All authors agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer-reviewed.

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