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Microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos in ectrodactyly ectodermal dysplasia cleft
Anmol Kar1, Bijnya Birajita Panda1, Sucheta Parija1
1Department of Ophthalmology, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Odisha, India.
BMJ Case Reports
|April 3, 2026
Abstract:
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.

