TY - JOUR
T1 - Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities
T2 - A new syndrome?
AU - Revesz, T.
AU - Fletcher, S.
AU - Al-Gazali, L. I.
AU - DeBuse, P.
PY - 1992
Y1 - 1992
N2 - A male infant was found to have bilateral exudative retinopathy at 6 months of age. A month later severe aplastic anaemia was diagnosed, eventually leading to the infant's death. Additional features of this seemingly new syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation.
AB - A male infant was found to have bilateral exudative retinopathy at 6 months of age. A month later severe aplastic anaemia was diagnosed, eventually leading to the infant's death. Additional features of this seemingly new syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation.
UR - http://www.scopus.com/inward/record.url?scp=0026803181&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026803181&partnerID=8YFLogxK
U2 - 10.1136/jmg.29.9.673
DO - 10.1136/jmg.29.9.673
M3 - Article
C2 - 1404302
AN - SCOPUS:0026803181
SN - 0022-2593
VL - 29
SP - 673
EP - 675
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 9
ER -