Table 1.

Clinical Characteristics of Selected Individuals With Heterozygous ACAN Mutations

Individual	Family 1			Family 2			Family 3
	II:1a	II:2	I:1	I:1	II:1	III:1a	II:5	III:5a	III:4
Sex	Male	Male	Female	Female	Female	Female	Female	Female	Female
Age, y:mo	8:5	5:10	27	58	34	14:1	38	14:9	3:7
Height, cm (SDS)	111.3 (−3.5)	105.7 (−1.8)	145.9 (−2.7)	145.8 (−2.7)	144.9 (−2.8)	137.2 (−4.0b)	138.2 (−3.8)	135.8 (−4.2b)	93.3 (−1.2)
Weight, kg (SDS)	27.9 (±0.0)	19.9 (−0.5)	81.5 (+1.6)		86.2 (+1.8)	44.5 (−0.7)	41.3 (−2.7)	43.5 (−1.1)	15.1 (±0.0)
Arm span (cm)	110.7	104.4	147.3		156.0	147.0	146.5
Sitting height index (SDS)	0.55 (+1.7)	0.57 (+1.7)	0.56 (+2.1)		0.52 (−0.6)	0.54 (+1.5)
Head circumference, cm	53.0	53.0	57.2		58		54.5	56.0
Bone age, y:mo (SDS)	12:0 (+4.5)	8:9 (+4.0)	N/A	N/A	N/A	N/A	N/A	N/A	5:9 (+3.5)
Predicted adult height, cm	138 cm	148 cm	N/A	N/A	N/A	N/A	N/A	N/A	N/A
Age at growth cessation, y	N/A	N/A	10	Unknown	12 − 13	12	12	12	N/A
Midface hypoplasia	Yes	Yes	Yes	Yes	Yes	Yes	No	No	No
Short thumbs	No	No	No	No	No	No	Yes	Yes	Yes
Brachydactyly	Yes	Yes	Yes	Yes	Yes	Yes	No	No	No
Early-onset osteoarthritis	No	No	No	No	No	No	Yes	OD	N/A

OD, osteochondritis dissecans.

^aProband.

^bAdult-height SDS.