PedAM
Pediatric Disease Annotations & Medicines
| Disease | ptosis |
| Phenotype | C0005744|blepharophimosis |
| Sentences | 2 |
| PubMedID- 24052735 | Facial anomalies in our patient such as thin blond thin hair, blepharophimosis with palpebral ptosis, short nose, open mouth with everted upper lip, high-arched palate, wide-spaced teeth and cupped everted ears, are similar to those reported previously by sommer et al. |
| PubMedID- 21934608 | Primarily, its diagnosis is based on four major features present at birth: short horizontal palpebral fissures (blepharophimosis), drooping of the eyelids (ptosis), a vertical fold of skin from the lower eyelid up either side of the nose (epicanthus inversus), and lateral displacement of the inner canthi with normal interpupillary distance(telecanthus; oley and baraitser, 1988). |
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