[Siblings with neonatal progeroid syndrome (Wiedemann-Rautenstrauch)].
Main diagnostic criteria of neonatal progeroid syndrome are: failure to thrive and lipoatrophy, old-looking face with hydrocephalic appearance, prominent scalp veins and sparse scalp hair, large hands and feet with long fingers and toes, often neonatal teeth. NPS is usually lethal by 7 months. 5 pairs of siblings with NPS are already published. We present the second report worldwide of two siblings with NPS actually at the age of 5 and 15 years.
Hoppen
T
T
Klinik für Kinder- und Jugendmedizin, Städtisches Klinikum Kemperhof, Koblenz. Thomas.Hoppen@kemperhof.de
Naumann
A
A
Theile
U
U
Rister
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D019066:Facies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012867:Skin / Q000473:pathology