Table 4 Skeletal anomalies in NF1 microdeletion patients.
| No. of patients* | Pectus excavatum | Scoliosis | Brachy‐dactyly | Brachy‐cephaly | Cubitus valgus | Metaphyseal anomalies | Poly‐dactyly | Other | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kayes et al7,13 | 3 | 2 | 1 | 2 | Absent coccyx; shield chest | |||||||||||||
| Wu et al28 | 1 | 1 | Metatarsus adductus | |||||||||||||||
| Leppig et al17 | 2 | 1 | Spinal stenosis; Madelung deformity | |||||||||||||||
| Colley et al9 | 2 | 2 | ||||||||||||||||
| Leppig et al16 | 6 | 2 | 2 | 2 | Dislocation of radii | |||||||||||||
| Tonsgard et al3 | 1 | Tibial torsion | ||||||||||||||||
| Cnossen et al4 | 1 | 1 | 1 | 1 | ||||||||||||||
| Valero et al25 | 1 | 1 | ||||||||||||||||
| Rasmussen et al21 | 3 | 2 | Fibular pseudoarthrosis | |||||||||||||||
| Ruggieri et al22 | 1 | 1 | ||||||||||||||||
| Riva et al23,28 | 2 | 1 | 1 | Broad diaphyses; flared rib cage; congenital hip dislocation; leg anomalies | ||||||||||||||
| Lopez‐Correa et al18 | 4 | 3 | 1 | |||||||||||||||
| Oktenli et al20 | 1 | 1 | 1 | 1 | Osteoporosis; spina bifida | |||||||||||||
| Venturin et al27 | 5 | 1 | 2 | 4 | 1 | Syndactyly; pes planus | ||||||||||||
| Kehrer‐Sawatzki et al14 | 3 | 2 | 1 | Camptodactyly | ||||||||||||||
| Our patients | 6 | 1 | 4 | 1 | 1 | 1 | Club foot; increased carrying angle; pectus carinatum | |||||||||||
| Total | 42 | 14 | 18 | 9 | 3 | 4 | 1 | 1 |
*Only those patients with some description of skeletal phenotype.