Table 2.
Frequency of clinical features in our cohort.
| Clinical Features | Frequency (%) |
|---|---|
| Prenatal findings | |
| IUGR/low birth weight | 4/17 (23.5%) |
| Increased nuchal translucency | 3/17 (17.6%) |
| Microcephaly | 1/17 (5.9%) |
| CHD | 5/17 (29.4%) |
| Oligohydramnios | 2/17 (11.8%) |
| Single umbilical artery | 3/17 (17.6%) |
| Postnatal findings | |
| Microcephaly (at last examination) | 6/14 (42.9%) |
| Dysmorphic features | 16/17 (94.1%) |
| CHD | 17/17(100%) |
| CDH | 2/17 (11.8%) |
| DD/ID | 14/14 (100%) |
| Hypotonia | 10/17 (58.8%) |
| Feeding difficulties/NGT dependence | 14/17 (82.4%) |
| Seizures/staring spells/EEG abnormalities | 3/17 (17.6%) |
| Hearing impairment | 5/14 (35.7%) |
| Strabismus | 6/15 (40%) |
| Asplenia | 2/17 (11.8%) |
| Clinodactyly | 5/17 (29.4%) |
| Genital anomalies | 8/17 (47.1%) |
| Renal anomalies/issues | 6/17 (35.3%) |
| Vascular anomalies | 2/17 (11.8%) |