Table 1 Clinical features of the duplication 4p16.3 cases
Clinical features | Present case | Cyr et al. [13] | Palumbo et al. [8] |
|---|---|---|---|
Duplication positions | 71,566–1,883,647 | 1,326,373-1,832,617 | 1,405,662-1,798,461 |
Other chromosome anomalies | Terminal deletion of 18q22.1 | – | – |
Gestational age (weeks) | 39 | 38–4/7 | Unknown |
Sex and age at diagnosis | M, 23 months | M, 9 months | M, 13 years |
Weight | < 50th centile | 30th centile | > 97th centile |
Height | > 75th centile | 30th centile | 90-97th centile |
Head circumference | > 75th centile | > 95th centile | 25-50th centile |
Neurologic | |||
Speech delay | Yes (severe) | Yes | Yes |
Developmental delay | Yes | Yes | Yes |
seizure | No | Yes | No |
Sensory Integration | Dysfunction (squinting while running) | Unknown | Dysfunction (ADHD) |
Short stature/failure to thrive | No | Yes | No |
MRI | Unknown | Dilatation of the lateral ventricles | Normal |
Craniofacial | |||
Macro/microcephaly | No | Yes (Macrocephaly) | No |
Frontal bossing | Yes | Yes | Yes |
Hypertelorism | Yes | Yes | Yes |
Epicanthal folds | Yes | Yes | Yes |
palpebral fissures | Normal | Narrow and long | Downslanted |
Eyes | Normal | Iris heterochromia; hyperopia | Hyperopia |
Ears | Low-set and dysmorphic | Low-set and posteriorly rotated | Normal |
Nose | Broad nasal root and short nasal bridge | Broad nasal root and short nasal bridge | Normal |
Palate | Normal | Normal | High arched |
Retrognathia/micrognathia | No | No | Yes |
Neck | Short | Short | Short |
Musculoskeletal | |||
Hypotonia/ Hypertonia | Yes (Hypotonia) | No | No |
Balance difficulty | Yes | No | Unknown |
Upper/Lower extremity | Longer fourth toe of the right foot | Bridged palmar crease, syndactyly, | Bilateral flatfoot |
Others | Umbilical hernia | Prominent fetal pads; slightly more hair in the lumbosacral region | Scoliosis, dental abnormalities, gynecomastia |