Geleophysic dysplasia caused by a mutation in FBN1: A case report

Table 1 Clinical and genetic characteristics of acromelic dysplasia cases due to mutations in c5242T, c5243G of FBN1 (+: Present, -: Absent, NA: Not available)[1,2,11]

	Our patient	Patient 1[2]	Patient 2[1]	Family[11]
				Patient 3 (proband)	Proband’s father	Proband’s sister	Proband’s children
Mutation	c.5243G>T (p.C1748F)	c.5242T>C (p.Cys1748Ser)	c.5243G>T (p.C1748F)	c.5242T>C (p.C1748R)
Disorder	GD	GD	WMS	WMS
Short stature	+	+	+	+	+	+	+
Short limbs	+	+	+	+	+	+	+
Stubby fingers and toes	+	+	+	+	+	+	+
Mitral valve thickening and regurgitation	Mild	-	NA	-	NA	NA	NA
Aortic dissection	-	-	-	+	-	-	-
Tracheal stenosis	+	+	-	-	-	-	-
Myopia	-	+	+	+	+	+	NA
Ectopia lentis	-	+	+	+	+	+	NA
Thyroid hypofunction	+	-	+	NA	NA	NA	NA
Hepatosplenomegaly	-	-	-	NA	NA	NA	NA

NA: Not available; GD: Geleophysic dysplasia; WMS: Weill-Marchesani syndrome.