Table 1.

Clinical Summary of the Patients

	Familial Cases			Simplex Cases
	F-1 (II-5a)	F-2 (III-1a)	F-3(III-2a)	S-1	S-2	S-3	S-4	S-5
Gender	F	F	M	M	M	F	F	F
Height
Age of examination (in years)	45	11	8	4	13	12	4	13
Z value	−9.2	−4.9	−4.4	−3.0	−1.7	−3.2	−4.2	−5.3
Birth weight (kg)	(low)	2.0	2.75	2.91	2.8	3.3	2.9	3.3
Clinical Findings
Midface retrusion	obvious	obvious	obvious	obvious	mild	mild	obvious	obvious
Radial head (sub)luxation	yes	yes	yes	yes	nob	noc	yes	yes
Knee	genu valgum, bilateral	genu varum, bilateral	genu valgum, bilateral	genu varum, bilateral	genu valgum with patellar dislocation, bilateral	genu valgum, right > left	windswept deformity	genu varum, mild
Hip	dislocation, right	none	none	none	none	none	subluxation, right	none
Spine deformity	scoliosis	none	none	kyphoscoliosis, mild	none	scoliosis, mild	kyphosis, mild	mild kyphosis, resolved
Laryngotra-cheomalacia	yes	yes	yes	yes	denied	denied	yes	denied
Other			strabismus					epilepsyd
Individual numbering in Kim et al.7	2	3	1	new	new	4	new	6

^aIn Figure 2.

^bCubitus varus with elbow flexion contracture.

^cMild flattening of the capitellum only.

^dBenign Rolandic epilepsy, controlled by medication.