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Article

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Jun 2006

Mari Francesca, Giachino Daniela, Russo Lucia, Pilia Giuseppe, Ariani Francesca, Scala Elisa, Chiappe Francesca, Sampieri Katia, Caporossi Aldo, Renieri Alessandra, Lasorella Giacomo

Abstract excerpt

Blepharophimosis-ptosis-epicanthus inversus syndrome (OMIM #U10100) is a rare autosomal-dominant disorder in which an eyelid malformation is associated (type I) or not (type H) with premature ovarian failure in the affected female. It is invariably characterized by 4 major features: (1) bilaterally shortened horizontal palpebral fissure (blepharophimosis); (2) severe impairment of the superior palpebral levator...

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Source

Identifiers

PMID: 16814186
DOI: 10.1016/j.jaapos.2006.01.002

Genes

FOXL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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