Hyaluronuria in a Case of Progeria (Hutchinson‐Gilford Syndrome)

M Tokunaga, E Wakamatsu, K Sato… - Journal of the …, 1978 - Wiley Online Library
… , Werner's syndrome and the Rothmund-Thomson syndrome … of Werner's syndrome and the
Rothmund-Thomson syndromeRadiographs revealed coxa valga and paralytic dislocation …

Adult progeria: a new mutation in the WRN gene

ML Rocha, AT Chicharo, G Sequeira… - BMJ Case Reports …, 2022 - casereports.bmj.com
Werner syndrome (WS) is a rare autosomal recessive inherited progeroid … . Radiographic
presentation of musculoskeletal involvement in Werner syndrome (adult progeria). Diagn Interv …

What have we learned so far on the molecular pathogenesis of Werner syndrome using mutant mouse models of this human progeroid disorder?

M Lebel, FB Johnson - Drug Discovery Today: Disease Models, 2018 - Elsevier
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by genomic
instability and the premature onset of several age-associated phenotypes. The protein …

[PDF][PDF] Femoral osteoporosis is more common than lumbar osteoporosis in patients with Werner syndrome

S Mori, H Zhou, M Yamaga… - Geriatrics & …, 2017 - mhlw-grants.niph.go.jp
Werner syndrome (WS) is a rare autosomal recessive genetic disorder characterized by …
Examination of thoracolumbar (T4–L4) radiographs showed that none of the patients sustained …

Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson‐Gilford Syndrome)

HM Nazir, A Ramesh Baabhu… - Case Reports in …, 2017 - Wiley Online Library
Radiograph of both hands’ … Radiograph of both feet’s anteroposterior view showed
resorption of terminal phalanges with preservation of soft tissue (Figure 4(b)). Radiograph of pelvis …

An inherited LMNA gene mutation in atypical Progeria syndrome

Y Doubaj, A De Sandre‐Giovannoli… - American Journal of …, 2012 - Wiley Online Library
… Besides “typical HGPS,” several “atypical progeria” syndromes (APS) have been described,
in a clinical spectrum ranging from mandibuloacral dysplasia to atypical Werner syndrome. …

Absent tibiae—polydactyly—triphalangeal thumbs with fibular dimelia: Variable expression of the Werner (McKusick 188770) syndrome?

FR Vargas, RL Pontes, JC Llerena Jr… - American journal of …, 1995 - Wiley Online Library
… autosoma1 dominant Werner syndrome (WS) (… Radiographs showed five digits on both
hands with three phalanges each (Fig. 3), normal radii and ulnae, polydactylous feet presenting a …

Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

A Garg, L Subramanyam, AK Agarwal… - The Journal of …, 2009 - academic.oup.com
… Chest radiograph showed bell-shaped contour of the rib cage with normal clavicles.
Radiographs of the hands and feet did not show acroosteolysis. Echocardiography revealed mild …

Current concepts in the classification, diagnosis and treatment of hemangiomas and vascular malformations of the head and neck

JA Werner, AA Dünne, BJ Folz, R Rochels… - European archives of …, 2001 - Springer
… In contrast, vascular malformations have to be treated according to their histopathology and
location, as well as their hemodynamic features as shown radiographically with angiography…

Ocular manifestations in the inherited DNA repair disorders

H Dollfus, F Porto, P Caussade, C Speeg-Schatz… - Survey of …, 2003 - Elsevier
syndrome, Trichothiodystrophy, Bloom syndrome, Rothmund-Thomson syndrome, and Werner
syndrome. … Early detection of osteosarcoma with baseline radiographs of the long bones …