Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.
Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to be involved in this neonatal progeroid syndrome.
Arboleda
H
H
Instituto de Genética, Universidad Nacional de Colombia, Santafé de Bogotá, Colombia.
Quintero
L
L
Yunis
E
E
D000015:Abnormalities, Multiple / Q000473:pathology; D001846:Bone Development / Q000502:physiology; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D006728:Hormones / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D050356:Lipid Metabolism; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D011371:Progeria / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D013577:Syndrome
D006728:Hormones