Table 1.
List of various abnormalities described in Occulo-facio-cardio-dental syndrome
| Ocular findings | Facial findings | Cardiac findings | Dental findings | Skeletal findings | Other findings |
|---|---|---|---|---|---|
| Congenital cataract* | Septate nasal cartilage* | Unresolved heart murmur | Delayed/persistent/unerupted dentition | Hammer toes | Mental retardation* |
| Microphthalmia/microcornea* | High nasal bridge*† | Septal defects (ASD*, VSD) | Root radiculomegaly (secondary teeth) | Second-third toe syndactyly | Cerebral atrophy ADHD |
| Coloboma *† Ptosis | Long narrow face*† | Patent ductus arteriosus | Hypodontia/duplication/fusion (secondary teeth) | Radioulnar synostosis | Hearing impairment |
| Secondary glaucoma | Palate/uvula anomalies | Valve incompetency | Enamel defects | Limited supination at wrist | Poor feeding |
| Lens dislocation | Simple ears* | Pentalogy of Fallot | Root dilacerations | Lordosis/scoliosis | Vomiting/reflux |
| Optic disk dysplasia | Dextrocardia | Malposistion and malocclusion† | Vertebral fusion | Asplenia | |
| Phthisis bulbi | Double outlet right ventricle | Short fingers *† | Vesicoureteral reflux | ||
| Iris synechia | |||||
| Retinal detachment | |||||
| Laterally curved and thick eyebrows*† |
*
Findings which were present in our index case
†
Findings which were present in mother