|
Year |
2007 |
|---|---|
|
Question Number |
142 |
|
Category |
Pediatric Orthopaedics |
Question
A child with a mutation of the fibroblast growth factor receptor 2 (FGFR2) gene has the foot deformities shown in Figure 49. What is the most likely diagnosis?
1- Achondroplasia
2- Apert syndrome
3- Klippel-Trenaunay-Weber syndrome
4- Marfan syndrome
5- Spondyloepiphyseal dysplasia
Figures
Answer (click for answer)
Answer: 2- Apert syndrome
The deformity illustrated in figure 142 is syndactyly of both feet, s a common manifestation of Apert syndrome. Apert syndrome, also known as acrocephalosyndactyl is a congenital disorder resulting in cranial and extremity anomalies. It is caused by a mutation in the FGFR 2 gene. In addition to syndactyly of the feet, anomalies seen in patients with Apert syndrome include cranial synostosis, a prominent forehead and a flat posterior skull . Achondroplasia results from a mutation in the FGFR-3 gene and results in dwarfism. Klippel-Trenaunay-Weber syndrome is associated with abnormal development of the lymph and blood vessels. Muskuloskeletal manifestations include hypertrophic bony and soft tissues. Spondyloepiphyseal dysplasia results from a mutation in the type 2 collagen gene COL2A1 and results in short trunk dwarfism.
Reference:
