Cell proliferation rate and nuclear morphometry in Roberts syndrome.
Roberts syndrome (RS) is a rare autosomal recessive disorder characterized primarily by symmetric reduction anomalies of all limbs, growth retardation and craniofacial abnormalities. Most RS patients are reported to present a typical abnormality of their constitutive heterochromatin, accompanied by abnormal cytological growth characteristics. We present an extremely severe case of an RS fetus, karyotypically documented, with a clinical presentation including growth deficiency, tetraphocomelia, frontal meningocele, craniofacial abnormalities and penile enlargement with hypospadias. Nuclear morphometrical analysis in tissues of various organs revealed a reduced nuclear size in RS as compared to normal controls, and statistically significant differences in morphometric parameters related to the nuclear shape. Immunohistochemical study of the same organs showed a reduced expression of proliferating cell nuclear antigen in the presented case, thus indicating a decreased cell proliferation rate in RS. Our results reconfirm previously reported findings in cultured fibroblasts of RS cases, thereby reinforcing on a histologic level, the hypothesis that reduced cell proliferation may be involved in the growth retardation and the reduction abnormalities observed in RS.
Pavlopoulos
P M
PM
Department of Pathology, School of Medicine, National University of Athens, Greece. takonst@otenet.gr
Konstantinidou
A E
AE
Agapitos
E
E
Davaris
P
P
D000015:Abnormalities, Multiple / Q000378:metabolism / Q000473:pathology*; D002455:Cell Division; D002467:Cell Nucleus; D005315:Fetal Diseases; D006801:Humans; D008297:Male; D018809:Proliferating Cell Nuclear Antigen / Q000096:biosynthesis*; D013577:Syndrome
D018809:Proliferating Cell Nuclear Antigen