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Microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos in ectrodactyly ectodermal dysplasia cleft lip/palate syndrome

delete2026-04-03
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PRE
AI
K
Kar, Anmol
M
Moharana, Bruttendu
DOI:10.1136/bcr-2025-266684delete
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Abstract

Abstract

En 中文
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.
Keywords:
Retina
Anatomic Variation

Journal

BMJ Case Reports cover
BMJ Case Reports
IF:
0.5
Papers:
929
Citations:
1.2W

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