Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: New case with normal telomere length in skin fibroblasts

Wiedemann-Rautenstrauch (neonatal progeroid) syndrome is an autosomal reces sive condition with characteristic appearance of premature aging present at birth (aged face, natal teeth, and wrinkled skin). Other features of the s yndrome are generalized lipoatrophy with specific fat accumulation in the l ateral suprabuttock region, hypotrichosis, macrocephaly (pseudohydrocephalu s), and mental retardation. We report on a new case that demonstrates all t ypical 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 fragmen t (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 obser ved in Hutchinson-Gilford progeria. (C) 2001 Wiley-Liss, Inc.