Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.
Three unrelated, mentally retarded boys with typical blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) were found to have chromosomal aberrations. One of them had a del(3)(p25), another patient had a de novo translocation t(2; 3), which after high resolution banding combined with chromosome painting was interpreted to be unbalanced with a loss of band q23. The third patient had a del(7)(q34). The phenotypes of the two patients with chromosome 3 related syndromes were similar, but the third also had genital malformations resembling the Smith-Lemli-Opitz syndrome. This patient had a palatal ridge, and a single mesial maxillary tooth suggesting the holoprosencephaly sequence, but CT scans of the brain were normal.
Warburg
M
M
Department of Ophthalmology, Gentofte Hospital, University of Copenhagen, Denmark.
Bugge
M
M
Brøndum-Nielsen
K
K
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D002897:Chromosomes, Human, Pair 7; D005124:Eye Abnormalities / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic; D014786:Vision Disorders / Q000235:genetics