Table 4.

Clinical features overlapping with BWS and syndromes that enter in differential diagnosis.

	BWS	SGB	Sotos	Perlman	RASopathies	PROS
Macroglossia	++	++			+
Abdominal wall defects	++	++	+
Segmental/lateralized overgrowth	++		+			++
Increased embryonal tumor risk	++	++		+ §	+ ^	+
Neonatal hypoglycemia	++	++	+
Birthweight > 2SD/macrosomia	+	++	++ *	++	++	+
Vascular defects	+				+	++
Ear creases and/or pits	+	+			+
Macrocephaly		++	++	++	++
Developmental delay/intellectual disability		++	++	++	++	+ °
Peculiar dysmorphic features	+	++	++		++	+/−
Congenital heart disease		++	++	+	++	+
Nephromegaly and/or hepatomegaly	+	++		+	+	+

⁺, present; ⁺⁺, frequently present; ^+/−, may be present or not; ^* birth weight usually normal; ^§ Wilms tumor; ^{^} especially in Costello syndrome; ^° especially in megalencephaly.