Diagnosing nail-patella syndrome: can it be so simple?

Area of Science:

• Genetics
• Pediatrics
• Medical Diagnostics

Background:

• Nail-patella syndrome (NPS) is a rare, dominantly inherited genetic disorder.
• Clinical manifestations of NPS can be subtle in neonates, leading to diagnostic challenges.
• Early identification of NPS is crucial for managing associated complications, particularly nephropathy.

Purpose of the Study:

• To report a case of neonatal nail-patella syndrome (NPS).
• To highlight the diagnostic approach and genetic confirmation of NPS in an infant.
• To emphasize the importance of recognizing NPS in neonates for timely intervention and genetic counseling.

Main Methods:

• Clinical examination of a 7-day-old male infant presenting with bilateral knee extension limitations.
• Radiographic assessment including pelvic radiographs to identify iliac horns and patellar abnormalities.
• Genetic analysis to identify mutations in the LMX1B gene for definitive diagnosis.

Main Results:

• The infant presented with dysplastic fingernails, abnormal patellae, and iliac horns on pelvic radiographs.
• Differential diagnoses were considered and excluded.
• A pathogenic mutation in the LMX1B gene was identified, confirming nail-patella syndrome (NPS).

Conclusions:

• Nail-patella syndrome (NPS) can present in neonates with subtle clinical signs.
• Integrated clinical and genetic evaluation is essential for accurate diagnosis of NPS in infants.
• Early NPS diagnosis has significant implications for prenatal diagnosis, family genetic counseling, and monitoring for renal complications.