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Updated: Apr 7, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
[An infant with a bowed lower leg]
Inge J S M L Vanhooymissen1, Rody Ouwendijk, Pauline M Snijder
1Erasmus MC, Rotterdam.
Insights
A 5-month-old boy with leg bowing was diagnosed with neurofibromatosis type 1. This genetic condition was confirmed due to his mother also having neurofibromatosis.
Area of Science:
- Pediatric Orthopedics
- Clinical Genetics
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder.
- NF1 can manifest with skeletal abnormalities, including tibial bowing.
Observation:
- A 5-month-old boy presented with anterolateral bowing of the left tibia and fibula.
- Radiographic imaging revealed intramedullary sclerosis in the affected bones.
Findings:
- The radiographic findings were characteristic of neurofibromatosis type 1.
- The boy's mother had a confirmed diagnosis of neurofibromatosis, supporting the genetic link.
Implications:
- Early diagnosis of NF1 in infants is crucial for timely management.
- Genetic counseling and regular monitoring are essential for affected children.
Abstract:
The parents of a 5-month-old boy noticed bowing of his left leg. Radiographic survey showed an anterolateral bowing of the left tibia and fibula with intramedullary sclerosis, typical for neurofibromatosis type 1. As the mother had neurofibromatosis, this boy was diagnosed with neurofibromatosis type 1.
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