Table 1.

Clinical details

	Patients
	P1 (Ullrich)	P2 (Ullrich)	P3
Sex	Male	Male	Male
Congenital hypotonia	Y	Y	N
Congenital hip dislocation	N	Y	N
Congenital abnormal position of hands and/or feet	Y	Y	N
Congenital torticollis	N	Y	N
Age at evaluation (years)	3.25	3.25	1.17
Weakness	Y	Y	N
proximal	Y (moderate)	Y (severe)	N
distal	Y (moderate)	Y (severe)	N
Contractures	Y	Y	N
elbows	N	N	N
hips	++	++	N
knees	+	+	N
ankles	+	+	N
Distal joint hyperlaxity	Y	Y	(Y) (mild)
Scoliosis	N	N	N
Abnormal skin findings	N	N	N
hypertrophic scars	N	N	N
keratosis pilaris	N	N	N
Achieved independent ambulation	Y	N	N
age achieved	3	–	–
age lost	–	–	–
Pulmonary compromise	N	Y (severe)	N
CK	1.5 × normal	1.4 × normal	normal

Y = Yes

N = No

+: moderate

++: severe

CK = creatine kinase