Roentgen Findings in Progeria

Schwarz, E

doi:10.1148/79.3.411

Cited by 14 publications

(4 citation statements)

References 2 publications

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“…Radiologically, with time osteopenia of the long bones develops. The long bones are slender and sometimes somewhat bowed [Schwarz, 1962; Kozlowski, 1965; Monu et al, 1990]. In the elbows, the capitulum is large and the head of the radius is wide with flattening and broadening of the epiphysis.…”

Section: Mobilitymentioning

confidence: 99%

Hutchinson–Gilford progeria syndrome: Review of the phenotype

Hennekam

2006

American J of Med Genetics Pt A

491

490

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Hutchinson–Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise. Cognitive development is normal. Data on 10 of our own cases and 132 cases from literature are presented. The incidence in the last century in the Netherlands was 1:4,000,000. Sex ratio was 1.2:1. Main first symptoms were failure to thrive (55%), hair loss (40%), skin problems (28%), and lipodystrophy (20%). Mean age at diagnosis was 2.9 years. Growth in weight was more disturbed than growth in height, and growth delay started already prenatally. Mean height > 13 years was 109.0 cm, mean weight was 14.5 kg. Osteolysis was wide‐spread but not expressed, except in the viscerocranium, and remained limited to membranous formed bone. Lipodystrophy is generalized, only intra‐abdominal fat depositions remain present. Cardiovascular problems are extremely variable, both in age of onset and nature. Stroke and coronary dysfunctioning are most frequent. Pathologic findings in coronaries and aorta resemble sometimes the findings in elderly persons, but can also be much more limited. Loss of smooth muscle cells seems the most important finding. Mean age of demise was 12.6 years. Patients can be subdivided in patients with classical HGPS, which follows an autosomal dominant pattern of inheritance, (almost) all cases representing spontaneous mutations, and in non‐classical progeria, in whom growth can be less retarded, scalp hair remains present for a longer time, lipodystrophy is more slowly progressive, osteolysis is more expressed except in the face, and survival well into adulthood is not uncommon. Pattern of inheritance of non‐classical progeria is most probably autosomal recessive. The cause of HGPS is an abnormally formed Lamin A, either directly by a mutated LMNA gene, or through abnormal posttranslational processing (ZMPSTE24 gene mutations). Of 34 LMNA mutations found in progeria patients, there were 26 classical p.G608G mutations (76%). Pathogenesis is most likely to follow several different pathways. Potential therapeutic strategies are developed along these lines and include RNA interference techniques and inhibition of the dominant‐negative influence of abnormally formed Lamin A on polymerization with normally formed Lamin A. © 2006 Wiley‐Liss, Inc.

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Section: Mobilitymentioning

confidence: 99%

Hutchinson–Gilford progeria syndrome: Review of the phenotype

Hennekam

2006

American J of Med Genetics Pt A

491

490

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“…Fourteen of the 15 skeletal features were noted either in 3 or in all 4 patients ( Table 1). Four features not previously reported (9)(10)(11)(12)(13)(14) are: 1) temporal variability in the appearance of epiphyseal ossification centers, 2) a valgus deformity of the humeral head and neck, 3) laminations beneath the periosteum of bone, and 4) transverse lines of increased density at the metaphyseal ends of the long bones. Acromelia, medullary stenosis of long bones, and modeling defects at the femoral head and neck (exclusive of the coxa valga) and in the metacarpal and metatarsal bones, have each been noted infrequently in previous reports.…”

Section: Resultsmentioning

confidence: 91%

“…Although there have been recent radiological case reports of progeria (9)(10)(11)(12)(13)(14), the bony changes in the patients of this study provide possible insights as to the basic developmental abnormality. These skeletal changes lend support to the suggestion (4, 15) that progeria may be the result of an error in early mesodermal differentiation.…”

Section: Vol XIXmentioning

confidence: 91%

Radiological Findings in Progeria

Reichel¹,

Bailey²,

Zigel³

et al. 1971

J American Geriatrics Society

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Roentgen evidence of 15 skeletal features was studied in 4 patients with progeria. Fourteen of the 15 features were noted in either 3 or all 4 patients. Four of these skeletal characteristics have not been noted previously—valgus deformity of the humeral head and neck, temporal variability in the appearance of epiphyseal ossification centers, laminations beneath the periosteum of bone, and transverse lines of increased density at the metaphyseal ends of the long bones. The 15 skeletal features could be accounted for on the basis of vascular and muscular alterations, and primary bone disturbances. Such diverse involvement of mesodermal derivatives suggests that the disorder in progeria originates during the early development of these structures. Pathological findings (sclerotic skin changes, subintimal fibrosis of vessels, multifocal interstitial myocardial fibrosis) and other evidence supports an abnormality of collagen metabolism which could be related to this mesodermal disorder.

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“…The skeletal features noted in this patient included acro-osteolysis, delayed closure of cranial sutures, wormian bones, lucent metaphyseal defects, and antegonial notching of the mandible. There are many similar skeletal abnormalities that are seen both in progeria and acrogeria (Table 2) [21,28,31]. Clinically, both conditions appear similar.…”

Section: Discussionmentioning

confidence: 90%

Skeletal abnormalities of acrogeria, a progeroid syndrome

White

Rasmussen

1987

Skeletal Radiol

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We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in Hutchinson-Gilford progeria syndrome. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder. The skeletal features described in 21 other reported cases of acrogeria are summarized.

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Roentgen Findings in Progeria

Cited by 14 publications

References 2 publications

Hutchinson–Gilford progeria syndrome: Review of the phenotype

Hutchinson–Gilford progeria syndrome: Review of the phenotype

Radiological Findings in Progeria

Skeletal abnormalities of acrogeria, a progeroid syndrome

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