A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature.
A boy with features suggesting the diagnosis of Wiedemann-Rautenstrauch 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 persistent anterior fontanelle and facial dysmorphism (triangular aged face, prominent eyes and scalp veins). Until now, only 13 cases (including one prenatal diagnosis) of this syndrome have been described. Since the borderlines of this syndrome are not very exact, we reviewed the previous reports in order to further delineate this rare syndrome.
Courtens
W
W
Department of Medical Genetics, Brugmann University Hospital, Brussels, Belgium.
Nuytinck
L
L
Fricx
C
C
André
J
J
Vamos
E
E
D000273:Adipose Tissue / Q000002:abnormalities; D002675:Child, Preschool; D003094:Collagen / Q000648:ultrastructure; D005145:Face / Q000002:abnormalities; D006801:Humans; D006984:Hypertrophy; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D011371:Progeria / Q000175:diagnosis* / Q000473:pathology; D012867:Skin / Q000648:ultrastructure; D012868:Skin Abnormalities; D012886:Skull / Q000002:abnormalities; D013577:Syndrome
D003094:Collagen