Table 1 Growth, development and phenotype of the patient
Age | Weight (kg) | Height (cm) | HC (cm) | Parietal foramina | Abnormality of ophthalmologic | Ear | Face | Development |
|---|---|---|---|---|---|---|---|---|
At birth | 2.85 | 49.0 | 31.5 | Anterior fontanelle 2.5 × 2.5 cm Posterior fontanelle 2.0 × 2.0 cm Accessible to the bone seam | Aniridia Ptosis | Low-set ears | Gothic arch | |
3 months | 5.40 | 56.4 | 37.0 | Anterior fontanelle >5x5cm | Aniridia Ptosis | Same as up | Same as up | Developmental delay High tension of limb muscles |
4 months | 6.40 | 59.2 | 38.0 | Anterior fontanelle >5x5cm | Aniridia Ptosis Nystagmus | Same as up | Same as up | Developmental delay High tension of limb muscles High back flexion tension |
5 months | 6.90 | 61.6 | 39.4 | Anterior fontanelle >5x5cm | Aniridia Ptosis Nystagmus | Same as up | Gothic arch Micrognathia | Developmental delay Limited abduction of both legs Great motor retardation |
6 month | 7.30 | 63.1 | 41.0 | Anterior fontanelle >5x5cm | Aniridia Ptosis Nystagmus | Same as up | Same as up | Developmental delay Great motor retardation |