TABLE 1
FROM:
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
Richard Redon, Geneviève Baujat, Damien Sanlaville, Martine Le Merrer, Michel Vekemans, Arnold Munnich, Nigel P Carter, Valérie Cormier-Daire and Laurence Colleaux
BACK TO ARTICLETable 1. Clinical manifestations in the two patients carrying the deletion at 9q22.32–q22.33
| Clinical features | Case 1 | Case 2 |
|---|---|---|
| Birth parameters | Macrosomy | Macrosomy |
| Height (cm) | 55 | 53 |
| Weight (g) | 4540 | 5070 |
| OFC (cm) | 39 | 41 |
| Neonatal period | Hypotonia | Hypotonia |
| Feeding difficulties | Feeding difficulties | |
| Craniofacial features | Trigonocephaly | Downslanting palpebral fissures |
| Epicanthic folds | Trigonocephaly | |
| Small mouth | Epicanthic folds | |
| Thin upper lip | Small mouth | |
| Low set ears | Thin upper lip | |
| Ear lobule uplift | Low set ears | |
| Ear pits | Ear lobule uplift | |
| Ear lobe thickened | ||
| Others congenital features | Short neck | Short neck |
| Pectus excavatum | Pectus excavatum | |
| Strabismus | Strabismus | |
| Umbilical hernia | Umbilical hernia | |
| Hyperlaxity | Median palmar crease | |
| Thyroglossal cyst | ||
| Psychomotor and behavioural development | Major global delay | Major global delay |
| Hyperactivity | Hyperactivity | |
| Neurology | Seizures | |
| Dermatology | 1 café au lait spot |
