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).

Phenotype	Our Patient	Yauy et al. (2017)		Baasanjav et al. (2011)		Job et al. (2016)	von Oettingen et al. (2014)	Jones et al. (2015)
Number of patients	1	6		5		1	1	1
Skeletal malformations
Short stature	+	−	(0/6)	+	(5/5)	−	+	+
Fractures	−	+	(4/6)			+	−	+
Anteverted nares	+			+	(4/5)	−	+	+
Small upturned nose	+					+	+	+
Hypertelorism	+							+
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)		−
Neurological
Small anterior pituitary	+			−		−	−
Partially empty sella							+
Other features
TSH abnormality	−					+
Cognitive delay	−					−	+
Stillborn sibling	+
GH deficiency	+
Congenital sensorineural deafness	+							+
Ketotic hypoglycaemia	+