Table 1 Phenotypic features of 4p interstitial deletion syndrome compared to our patient with 4p15.32p16.1 deletion
Clinical features | 4p interstitial deletion syndrome | 4p15.32p16.1 deletion (current patient) |
|---|---|---|
Developmental delays | Mild to severe | Severe |
Hypotonia | 10/13 | Yes, severe |
Tall thin body habitus | 5/10 | Thin and short stature |
Microcephaly | 2/12 | Yes |
Large beaked nose | 8/12 | No |
Long face | 6/12 | No |
Upslanting palpebral fissures | 5/12 | Down-slanting palpebral fissures |
Hypertelorism | 4/12 | Yes |
Craniosynostosis | 1/13 | Multi-suture |