Clinical findings documented in six reported patients with the ocular ectodermal syndrome
| Toriello et al (1993) | Gardner and Viljoen (1994) | Evers et al (1994) Patient 5 | Present case (1998) Patient 6 | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | ||||||||
| Birth weight (kg) | 3.17 | 4.7 | unknown | 2.74 | 4.09 | 2.86 | |||||
| Birth OFC | |||||||||||
| (cm) | 36 | 40.5 | unknown | 34 | 38 | 43.2 | |||||
| (centile) | (>98th) | (>98th) | unknown | (10–25th) | (>98th) | (>98th) | |||||
| Postnatal macrocephaly | − | + | +/− | − | + | − | |||||
| Craniofacial anomalies | |||||||||||
| Parietal bossing | − | + | + | + | − | − | |||||
| Frontal bossing | − | − | − | − | + | − | |||||
| Skull defect | − | − | − | + | − | + | |||||
| (location) | (vertex) | (parietal) | |||||||||
| Prominent eyes | + | − | − | + | − | − | |||||
| Epicanthal folds | − | + | + | + | − | − | |||||
| Flat nasal bridge | − | + | + | + | − | − | |||||
| Ocular anomalies | |||||||||||
| Epibulbar dermoid | + | + | + | + | + | + | |||||
| Other findings | chorioretinal atrophy; corneal opacity; strabismus | abnormal retinal pigment epithelium; hypermetropic astigmatism; strabismus; small disc right eye; large disc left eye | esotropia | ||||||||
| Ectodermal anomalies | |||||||||||
| Aplasia cutis congenita | + | + | + | + | + | − | |||||
| Skin hyperpigmentation | + | + | − | − | − | − | |||||
| Skin myxovascular hamartoma | − | − | − | − | − | + | |||||
↵Occipitofrontal circumference.