TABLE 1.

Werner syndrome diagnostic criteria (Oshima et al., 2017).

	Proband
Cardinal signs and symptoms (onset over 10 years old)
Bilateral cataracts	+
Characteristic dermatological pathology and facies a	+
Short stature	+
Consanguinity b or affected sibling
Premature greying and/or thinning of scalp hair	+
Further signs and symptoms
Diabetes mellitus
Hypogonadism c	+
Osteoporosis	+
Osteosclerosis of distal phalanges of fingers and/or toes d
Soft tissue calcification
Evidence of premature atherosclerosis e
Mesenchymal/rare/multiple neoplasms	+
Voice changes f	+
Flat feet

Proband’s signs and symptoms matched the criteria for “probable diagnosis” of Werner syndrome. Definite: all the cardinal signs and two further signs, probable: the first three cardinal signs and any two others, possible: either cataracts or dermatological alterations and any four others. Exclusion criteria: onset of signs and symptoms before adolescence (except stature).

^a Consisting of tight skin, atrophic skin, pigmentary alterations, ulceration, hyperkeratosis, regional subcutaneous atrophy and “bird” facies.

^b Third cousin or greater.

^c Consisting of secondary sexual underdevelopment, diminished fertility, testicular or ovarian atrophy.

^d X-ray diagnosis.

^e History of myocardial infarction.

^f High-pitched, squeaky, or hoarse voice.

+: present.