Case Report

Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

Table 1

Comparison of known B3GAT3 phenotypes (+: expresses phenotype; −: does not express phenotype).

PhenotypeOur PatientYauy et al. (2017)Baasanjav et al. (2011)Job et al. (2016)von Oettingen et al. (2014)Jones et al. (2015)

Number of patients165111
Skeletal malformations
Short stature+(0/6)+(5/5)++
Anteverted nares++(4/5)++
Small upturned nose++++
Frontal bossing++
Short proximal bones+++
Hypermobile joints+
Dislocating joints+(3/6)+++
Joint laxity++
Diffuse demineralisation+++
Downslanting palpebral fissures++(3/5)+
Congenital heart defects+(3/7)
Ventricular septal defect++(2/5)+
Pulmonary stenosis+
Bicuspid aortic valve+(3/5)+
Aortic root dilation+(3/5)+
Mitral valve prolapse+(4/5)
Small anterior pituitary+
Partially empty sella+
Other features
TSH abnormality+
Cognitive delay+
Stillborn sibling+
GH deficiency+
Congenital sensorineural deafness++
Ketotic hypoglycaemia+