Table 1.

Summary of clinical and genotypic features of 2 Chinese children with KS

Case ID	Patient 1	Patient 2
Gender	M	M
Age at diagnosis (months)	26	5
Elongated palpebral fissures	+	+
Eversion of the lateral third of the lower eyelid	+	+
Laterally sparse eyebrows	+	+
Depressed nasal tip	+	+
Micrognathia	+	+
Abnormal dentition	+	-
Spinal column abnormalities	+	+
Joint hypermobility/dislocation	-	+
Single palmar crease	+	+
Clinodactyly of fifth digits	+	+
Postnatal growth deficiency	+	+
Genitourinary anomalies	+	+
Cerebellar vermis dysplasia	-	+
Hypotonia	+	+
Motor delay	+	+
Feeding problem	+	-
Recurrent infection	+	-
Causing gene	KMT2D	KMT2D
Exon	22	31
Mutation	c.5235delA	c.7048G>A
Amino-acid change	p.(A1746Lfs*39)	p.(Q2350*)
Mutation type	Frameshift	Nonsense
Novelty	Novel	Novel

Abbreviations: M, male; +, present; -, absent