Total: 3 |
|
PMID (PMCID) | ||
---|---|---|
15702131 |
FEMALE | Adult |
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. | ||
Bremond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Eur J Hum Genet. 2005;13(4):409-13. |
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She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. | ||
15226738 |
FEMALE | Child |
Congenital ptosis and associated congenital malformations. | ||
Yilmaz N, Hosal BM, Zilelioglu G. J AAPOS. 2004;8(3):293-5. |
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We report a case of unilateral congenital ptosis which is associated with ocular and systemic congenital malformations including mild microphthalmia, microcornea, cataract, iris and chorioretinal coloboma, ectopic kidney, and ventricular septal defect. | ||
7891979 |
MIXED_SAMPLE | Child |
Bilateral diffuse iris nodular nevi. Clinical and histopathologic characterization. | ||
Ticho BH, Rosner M, Mets MB, Tso MO. Ophthalmology. 1995;102(3):419-25. |
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The authors describe 30 patients with bilateral diffuse iris nodular nevi and report associations with bilateral congenital cataract, neurofibromatosis, oculodermal melanocytosis, congenital ptosis, morning glory anomaly, Axenfeld anomaly, or Peters anomaly. |