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Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf-Hirschhorn syndrome facial phenotype.

Original publication




Journal article


European journal of human genetics : EJHG

Publication Date





33 - 40


Molecular Medicine Unit, UCL Institute of Child Health, London, UK.


Chromosomes, Human, Pair 4, Humans, Hypertelorism, Facial Asymmetry, Chromosome Deletion, Translocation, Genetic, Linear Models, Case-Control Studies, Phenotype, Principal Component Analysis, Image Processing, Computer-Assisted, Pattern Recognition, Automated, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Receptor, Fibroblast Growth Factor, Type 5, Wolf-Hirschhorn Syndrome, Young Adult, Genetic Association Studies