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[The human genome project and genomic analysis of progeroid syndromes].
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Another disorder with prenatal shortness of stature and premature aging.
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[The cellular basis of biological aging (author's transl)].
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Study of a family with a new progeroid syndrome.
From a family of 14 sibs, we described 2 males and 2 females with a new progeroid syndrome. The clinical characteristics of this syndrome are as follows: complete arrest of somatic growth by age 11; initiation of somatic changes at age 6 or 7 years; partial alopecia in the males, without greying of the hair; skeletal changes of skull and facies giving a bird-like appearance; micrognathia; total or partial absence of both clavicles; bell-shaped thorax with severe acroosteolysis; and coxa valga. In one case there was presence of soft tissue calcifications. Marked hypoplasia of the subcutaneous tissue and mottled hyperpigmentation of the skin, with sclerodermoid changes of hands and feet, and dystrophic nails were prominent features. Two of the patients (Cases 1 and 3) had a borderline glucose tolerance test. Case 2 showed a diabetic curve and Case 4 was not investigated. We believe that these cases have enough clinical and radiographic findings to be considered a new progeroid syndrome, autosomal recessive, and different from the classically described Werner and Hutchinson-Gilford syndromes.
[Electroencephalographic reports on the dysmorphic syndrome].
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[The road toward molecular comprehension of diseases].
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[Syndromes of premature aging].
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Spinocerebral degeneration, Friedreich type, with hypogonadotrophic infantilism and precocious serenity.
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[Two cases of Werner's syndrome].
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[Atypical & abortive forms of Werner's syndrome].
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[The Werner syndrome within the group of congenital skin atrophies with a report on a personal case].
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[Genito-dystrophic gerodermatolysis. General precocious senescence with hyperadrenalism of the predominantly androgen type].
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Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals.
Seventy individuals with ataxia telangiectasia were studied: 29 females and 41 males with an age range of 2 to 42 years. The majority (43/68) presented by 3 years of age with truncal ataxia. All had progressive, handicapping neurological symptoms exhibiting ataxia (70/70), ocular motor apraxia (70/70), an impassive face (70/70), dysarthria (70/70), chorea (68/70), dystonia (55/70) and peripheral neuropathy (50/70). Clinical immune deficiency was present in 43 of 70 patients. Ocular telangiectasia were seen in all but one case and excessive thinness in 54 of 70. The mean age of loss of walking was 10 years and of writing 8 years. All 60 tested showed increased sensitivity to ionizing irradiation, 43 of 48 had an elevated alpha-fetoprotein level and 14 of 21 had an immunoglobulin deficiency. Although there was a marked variation in disease findings sibs were always similar. The heterogeneity seen seems at odds with the unilocus linkage of ataxia telangiectasia to 11q23.