Table 1.

Clinical Findings of the Affected Individuals with XLR SEMD BGN Type

Family	F1 (Korean)						F2 (Italian)		F3 (Indian)
Subject	IV-1	IV-2	II-1	II-2	II-6	V-8	V-9	VI-2	III-4
Age at onset of symptoma	12 months	15 months	<2 years	<2 years	<2 years	18 months	18 months	18 months	around 2 years
Age at exam	5 years 1 month	2 years 9 months	72 years	70 years	60 years	52 years (73 yearsb)	50 years (51 yearsb)	25 years (46 yearsb)	10 years
Height at exam (cm) (SD)	90 (−4.17)	79.6 (−3.56)	115 (−9.67)	113 (−10)	115 (−9.67)	119 (−8.98)	125 (−7.95)	131 (−6.91)c	103 (−5.58)
Weight at exam (kg) (SD)	17.1 (−0.78)	13.5 (−0.83)	ND	ND	ND	68 (0.51)	58 (−0.55)	ND	30 (−1.15)
Mesomelic short limbs	+	+	+	+	+	+	+	+	+
Genu varum	+	+	+	+	+	+	+	+	+
Lumbar lodosis	+	+	+	+	+	+	+	ND	−
Brachydactyly	+	+	+	+	+	+	+	+	+
Joint laxity	+	+	+	+	+	−	−	−	−
Waddling gait	+	+	+	+	+	+	+	+	+
Episode of fractures	−	−	−	−	−	−	+d	+e	−
Current medication	−	−	AHD	AHD	AHD	AHD	AHD	−	−
Intelligence	N	N	N	N	N	N	N	N	N
BGN mutation	c.[439A>G];[0]	c.[439A>G];[0]	ND	c.[439A>G];[0]	c.[439A>G];[0]	c.[776G>T];[0]	c.[776G>T];[0]	c.[776G>T];[0]	c.[439A>G];[0]

All affected individuals had no hypotonia, limitation of movement, joint pain during childhood, early degenerative osteoarthritis, dentinogenesis imperfecta, hyperextensibility, visual difficulty, hearing difficulty, or neurologic abnormalities. Abbreviations are as follows: N, normal; ND, not described; SDS, standard deviation score; DI, dentinogenesis imperfecta; AHD, antihypertensive drug.

^aDisproportionately short stature with markedly bowed legs.

^bFollow up examination in 2015.

^c160 (−1.91) cm after surgery.

^dFracture of femur secondary to accidental trauma at 60 years.

^eVarious fractures after lengthening of the lower limbs.