Table 1.

Comparative analysis of clinical phenotypes of LS and BD

Case	Proband gender	Mutation in FLNB NM_001457.3	Diagnosis	Hypo-dysplasia of mid-face	Hypo-dysplasia of vertebral	Absence of long bones	Supernumerary ossification centers	Spatulate fingers	Deformities beyond skeletal system
Case 1	Male	c.4756G>A (G1586R)	LS	+	+	-	+	+	-
Case 2 [10]	Male	c.4756G>A (G1586R)	LS	+	+	-	+	+	-
Case 3 [6]	Male	c.512T>G (L171R)	BD	+	+	+	-	-	-

Case 1 is the proband of an LS pedigree reported in this article, and the same mutation was also detected in Case 2 which was reported previously [10]. Case 3 was a previously reported BD case, which was a male fetus with premature delivery [6]. LS: Larsen Syndrome; BD: Boomerang Dysplasia; +, present; -, absent.