PedAM
Pediatric Disease Annotations & Medicines
| Disease | dwarfism |
| Phenotype | C0029454|osteopetrosis |
| Sentences | 2 |
| PubMedID- 24817753 | Typically osteopetrosis presents with fractures, short stature, and hypocalcemia, pancytopenia and optic nerve compression and rarely hypogenitalism. |
| PubMedID- 22346242 | Here we report a rare case of malignant osteopetrosis presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy. |
Page: 1