Table 1.

Clinical Features of Patients in Families G–J

Patient	GII-3	GII-10	HII-2	III-6	III-7	IIII-5	IIII-6	JII-1
Age at examination (years)	13	20	50	20	17	Died at age 9	13	12
Sex	male	female	female	female	female	male	male	male
Height(m)/Weight (kg)	1.32/36	1.63/53	1.46/46	1.65/62	1.60/55	known short stature	1.37/34	1.10/23
Cutaneous hyperpigmentation, hypertrichosis and induration	genitals, inner thighs, shins	−	−	inner and posterior thighs, shins	inner thighs, shins, hyperpigmented reticulate patches over trunk	NA	lower back and abdomen, genitals, thighs, shins, dorsum of foot	mid-abdomen and back, genitals, thighs, shins, dorsum of foot, forearms
Genital examination	subcutaneous masses, micropenis	−	−	−	subcutaneous masses	NA	subcutaneous masses, micropenis	subcutaneous masses, micropenis
			lack of secondary sexual signs
Hepatosplenomegaly	hepatomegaly	−	hepatomegaly	−	−	hepatomegaly	+	+
Heart examination	mild pulmonic stenosis	2/6 systolic murmura	−	mild pericardial effusion	−	patent ductus arteriosus with right to left shunt, left superior vena cava to coronary sinus	pulmonary hypertension	2/6 systolic murmura
Hearing loss	+	+	−	+	+	+	−	+
Hallux valgus	+	+	+	+	+	+	+	−
			severe rocker bottom deformity of foot
Fixed flexion contracture of proximal interphalangeal joints	+ mild	+	+	+	+	NA	+	+
Lateral tibial torsion	−	−	+	+	+	−	−	+
Varicose veins	+	+	+	+	+	NA	−	−
			stasis ulcers
Exophthalmos	−	−	+	+	−	NA	−	−
Dilated lateral scleral vasculature	+	+	−	+	+	NA	+	+
Facial telangiectases	−	+	+	+	+	+	+	−
Mental retardation	−	−	−	−	−	−	mild	−
Other findings			arcus senilis hematologic illness				arcus senilis	arcus senilis, gynecomastia

NA, not available for examination.

^aEchocardiography was unavailable.