Microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos in ectrodactyly ectodermal dysplasia cleft lip/palate syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome presents with the triad of claw-like hand/feet, ectodermal dysplasia and cleft lip/palate. Presentation with the complete triad is rare. Involvement of intraocular tissues has rarely been reported. Here we report a case of EEC syndrome with complete triad, microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos.
Authors
- Sucheta Parija (ORCID: https://orcid.org/0000-0003-1637-8238)
- Bijnya Birajita Panda (ORCID: https://orcid.org/0000-0002-0887-1690)
- Bruttendu Moharana (ORCID: https://orcid.org/0000-0003-4884-8695)
- Anmol Kar
Institutions
- All India Institute of Medical Sciences Bhubaneswar (IN)
Publication Details
- Journal
- BMJ Case Reports
- Published
- 2026-04-01
- DOI
- https://doi.org/10.1136/bcr-2025-266684
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00