Table 1.
Clinical features
|
ANKRD11 mutation |
Deletion 16q24.3 |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | P9 | P10 | P11 | P12 | |
| Gender | M | M | M | M | F | M | M | F | F | M | M | F |
| Prenatal period and birth | ||||||||||||
| Pregnancy complications | + | − | − | + | + | + | − | − | − | + | + | − |
| IUGR | − | − | − | − | + | − | − | − | − | − | − | − |
| Cesarean section | − | − | + | − | − | − | + | + | + | + | − | − |
| Growth | ||||||||||||
| Short stature | + | − | + | + | + | + | + | + | + | − | + | − |
| Craniofacial dismorphism | ||||||||||||
| Microcephaly | − | + | − | − | + | − | − | − | + | − | − | − |
| Brachycephaly | + | − | − | − | + | + | + | − | − | − | + | − |
| Coarse face | + | + | + | + | + | + | + | + | + | + | + | + |
| Nose abnormalities | + | + | + | + | + | + | + | + | + | + | + | + |
| Long philtrum | + | + | + | + | + | + | + | + | + | + | + | + |
| Oral abnormalities | + | + | + | + | + | + | + | + | + | + | + | + |
| Macrodontia | + | + | + | + | + | DECa | + | + | + | DECa | + | DECa |
| Large protruding ears | + | + | + | + | + | + | + | + | + | + | + | + |
| Skeletal anomalies | ||||||||||||
| Wide anterior fontanelle | − | − | − | − | − | − | − | − | − | − | − | + |
| Delayed bone age | + | + | + | + | − | + | + | + | − | + | + | + |
| Costal anomalies | + | + | + | + | + | + | − | + | + | + | + | + |
| Spinal anomalies (scoliosis/kyphosis) | + | + | + | + | + | − | + | − | + | − | + | − |
| Joint stiffness | + | + | + | + | + | − | + | + | + | + | + | + |
| Hand anomalies | ||||||||||||
| Clinodactyly | + | + | + | + | + | + | + | + | + | + | + | + |
| Brachydactyly | + | + | + | + | + | + | + | + | + | + | − | − |
| Neurological involvement | ||||||||||||
| Developmental delay | + | − | + | + | + | + | − | + | + | + | + | + |
| Intellectual disability, IQ <80 | + | − | + | + | + | + | + | − | + | + | + | + |
| Behavioral abnormalities | + | + | + | + | + | + | + | + | + | + | + | + |
| Epilepsy/EEG anomalies | + | − | + | U | U | + | U | U | U | − | − | − |
| Brain imaging anomalies | + | + | − | + | − | + | + | U | + | + | + | U |
| Other features | ||||||||||||
| Heart defects | + | − | + | − | + | − | − | + | − | − | + | − |
| Hearing loss | + | − | − | + | − | − | − | − | + | − | − | − |
| Cryptorchidism | − | + | − | − | NA | − | − | NA | NA | + | − | NA |
| Kidney abnormalities | + | − | + | − | + | − | − | − | − | + | − | − |
| Hematological anomalies | − | + | − | − | − | − | − | − | − | − | + | − |
DEC, deciduous teeth; IUGR, intrauterine growth restriction; IQ, intellectual quotient; NA, not applicable; P, patient; U, unknown; +, present; −, absent.
a
Macrodontia of decidual teeth.