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.
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008844:Micrognathism; D010375:Pedigree; D011371:Progeria / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome