Progeria in siblings.
Progeria or 'prematurely old' is an autosomal recessive trait that appears insidiously at or after the age of 6 months. Two affected siblings are reported showing radiologically progressive attenuation of the clavicles and terminal phalanges, widening of cranial sutures and mandibular hypoplasia. Scleroderma was also present. Out of 59 previously published cases five had scleroderma before the age of 2 years. Only three families with affected siblings have been previously recorded.
D001862:Bone Resorption / Q000209:etiology; D002675:Child, Preschool; D002968:Clavicle / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D008334:Mandible / Q000000981:diagnostic imaging; D008336:Mandibular Diseases / Q000209:etiology; D010375:Pedigree; D011371:Progeria / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D012595:Scleroderma, Systemic / Q000150:complications