eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microphthalmia |
| Comorbidity | C0155285|orbital cyst |
| Sentences | 5 |
| PubMedID- 20689212 | Delleman and oorthuys reported the presence of microphthalmos with an orbital cyst in their cases. |
| PubMedID- 24131950 | To the authors' knowledge, this is the first reported case of lenz microphthalmia syndrome with associated orbital cysts. |
| PubMedID- 25759931 | Purpose: the purpose of this study was to report an unusual case of severe microphthalmos, together with an orbital cyst and huge ocular surface dermolipoma. |
| PubMedID- 24881613 | [10] the minimal diagnostic criteria for delleman-oorthuys syndrome (oculocerebrocutaneous syndrome) includes a cns cyst or hydrocephalus, microphthalmia with orbital cyst, and focal dermal hypoplasia or aplasia. |
| PubMedID- 23696273 | We report a young girl with fdh, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in porcn. |
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