The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literature.
A boy with the pseudo-hydrocephalic progeroid syndrome (McKusic 26409) is presented and compared to five previously reported children. The boy presented with major skeletal abnormalities, which receded during the first few months of life. Special investigations like studies on collagen, electron microscopy, and growth studies of fibroblasts did not contribute to our knowledge of the pathogenesis of this rare disease.
Rudin
C
C
Universitäts-Kinderklinik, Basel, Switzerland.
Thommen
L
L
Fliegel
C
C
Steinmann
B
B
Bühler
U
U
D003094:Collagen / Q000032:analysis; D005145:Face; D006801:Humans; D006849:Hydrocephalus / Q000378:metabolism / Q000473:pathology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011371:Progeria / Q000378:metabolism / Q000473:pathology*; D013577:Syndrome; D014080:Tooth Exfoliation
D003094:Collagen