Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts.
Wiedemann-Rautenstrauch (neonatal progeroid) syndrome is an autosomal recessive condition with characteristic appearance of premature aging present at birth (aged face, natal teeth, and wrinkled skin). Other features of the syndrome are generalized lipoatrophy with specific fat accumulation in the lateral suprabuttock region, hypotrichosis, macrocephaly (pseudohydrocephalus), and mental retardation. We report on a new case that demonstrates all typical features of the syndrome. The girl is now 16 years and 10 months old and has had follow-up from birth. We measured terminal restriction fragment (TRF) length to evaluate whether the patient's premature aging process is accompanied by shortening of telomere length in her cultured fibroblasts. Mean TRF of 13.5 kb found in our patient's fibroblasts is not shortened as compared to that of normal fibroblasts. Our results differ from those observed in Hutchinson-Gilford progeria.
Korniszewski
L
L
Department of Pediatric Diabetology and Birth Defects, University Medical School, Dzialdowska 1, 01-184 Warsaw, Poland.
Nowak
R
R
Oknińska-Hoffmann
E
E
Skórka
A
A
Gieruszczak-Białek
D
D
Sawadro-Rochowska
M
M
D000293:Adolescent; D015139:Blotting, Southern; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011371:Progeria / Q000235:genetics*; D012867:Skin / Q000166:cytology / Q000378:metabolism; D016615:Telomere / Q000235:genetics*
D004247:DNA