W. Courtens et al., A PROBABLE CASE OF WIEDEMANN-RAUTENSTRAUCH SYNDROME OR NEONATAL PROGEROID SYNDROME AND REVIEW OF THE LITERATURE, Clinical dysmorphology, 6(3), 1997, pp. 219-227
A boy with features suggesting the diagnosis of Wiedemann-Rautenstrauc
h syndrome (WRS) or neonatal progeroid syndrome is presented. Abnormal
findings included a generalized virtual absence of subcutaneous fat,
sparse scalp hair, prominence of veins and muscles, a large and persis
tent anterior fontanelle and facial dysmorphism (triangular aged face,
prominent eyes and scalp veins). Until now only 13 cases (including o
ne prenatal diagnosis) of this syndrome have been described. Since the
borderlines of this syndrome are not very exact, we reviewed the prev
ious reports in order to further delineate this rare syndrome.