LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient

Table 1

Comparison of the clinical features of LS in the reported cases in Saudi Arabia.

	Our case	Case 1 of Alfurayh et al. [3]	Case 2 of Alfurayh et al. [3]	Case 3 of Alfurayh et al. [3]
Age/sex	5 years/female	37 years/male	4 years/male	18 months/male
Age of first lentigines	2 years	Unknown	6 months	2 months
Height (in cm) (percentile)	101 (3rd)	163	103 (50th)	88 (>95th)
Cardiac defects	VSD	ASD	−	ASD and VSD
Pulmonary stenosis	−	−	−	−
Deafness	+	−	−	−
Ocular hypertelorism	+	+	+	+
Pectus excavatum/carinatum	Pectus carinatum	Pectus excavatum	Pectus excavatum	−
Motor delay	+	+	+	+
PTPN11 mutation	Exon 7, c.836A>G, p.Tyr279Cys	Exon 7, c.836A>G, p.Tyr279Cys	Exon 7, c.836A>G, p.Tyr279Cys	Exon 7, c.836A>G, p.Tyr279Cys

VSD, ventricular septal defects; ASD, atrial septal defects