Acroosteolysis dominant type

A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

Downslanted palpebral fissures

The palpebral fissure inclination is more than two standard deviations below the mean.


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PMID (PMCID)