An investigation of so-called X-linked errors on the Ishihara plates

Blepharophimosis-mental retardation (BMR

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

✍ Alain Verloes; Dominique Bremond-Gignac; Bertrand Isidor; Albert David; Clarisse 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 337 KB 👁 2 views

## Abstract We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young‐