INTRODUCTIONThe “blepharophimosis‐mental retardation” syndromes (BMRS) represent a group of congenital malformation syndromes where short palpebral fissures and intellectual disability are associated with variable other anomalies. To date, over a hundred BMR syndromes are recognized with a rather broad spectrum of symptoms and a heterogeneous genetic etiology—Dentici, Mingarelli, and Dallapiccola () point out difficulties in their nosology and differential diagnosis. A clinical classification for the Ohdo‐ and Ohdo‐like entities into five groups was proposed by Verloes et al. () in 2006, but concept for the categorization of the numerous other BMR syndromes is still lacking. Based on their core phenotypic features and genetic origin, the following grouping may be applied: 1) Chromosomal imbalances, especially those of chromosome 3 (p and q) (de Ru et al., ; Dean, Holden, Dwivedi, Dupont, & Lyons, ; Kuechler et al., ; Lim et al., ). Other chromosomal regions whose loss or gain were found to be connected to a BMR phenotype are summarized and reviewed by Bartholdi et al. (). 2) KAT6B‐related disorders including the Say/Barber‐Biesecker/Young‐Simpson syndrome (OMIM 603736) with a mask‐like, immobile face, long proximal phalanx of the thumb, typically normal somatic growth, hypothyroidism and dental anomalies (Campeau & Lee, ; Szakszon et
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 2018
Keywords: ; ; ;
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