title: Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.
abstract: Roberts syndrome is a rare autosomal recessive genetic disorder (MIM 268300). It is characterized by pre and postnatal growth retardation, severe shortening of limbs with radial defects, oligodactyly and characteristic facial features. The present study reports 4 new cases of Roberts syndrome from 3 families presenting variable phenotypes. Patients were thoroughly investigated clinically and cytogenetically. By reviewing literature, we compared our cases to those previously reported. The rating severity system proposed by Van den Berg and Francke (30) was applied to correlate the phenotypic and cytogenetics changes. We observed more severe reduction defects in the upper limbs than in the lower limbs. While the main reduction defects in the upper limbs involved the thumb and radius ranging to phocomelia, absent or severely hypoplastic fibula was the main lower limb involvement. We emphasize this finding in the present investigation. Heterochromatin repulsion of chromosomes derived from Roberts syndrome patients is a characteristic cytogenetic abnormality. It was a constant finding in our studied patients demonstrated by DABI stain which supports the possibility that mutations in Roberts syndrome lie in centromere related proteins which may also play a role in body patterning. This was proved recently by Vega et al. (31). Application of the clinical rating score and its correlation with cytogenetic changes showed negative results. Cytogenetic studies in normal obligatory heterozygotes parents showed no changes. Phenotypic variability within the same family as well as between different families was observed. The ascertainment of 4 cases with Roberts syndrome from 3 Egyptian consanguineous families during one year in our department may indicate a high frequency of the Roberts syndrome allele among Egyptians. This confirms the need for molecular studies for early and accurate prenatal diagnosis to prevent such dramatic malformation syndrome.
authors.affiliation: Clinical Genetics Department, Division of Human Genetics and Genome Research, The National Research Centre, Cairo, Egypt. stemtamy@link.net
authors.forename: S A
authors.initials: SA
authors.lastname: Temtamy
authors.forename: S
authors.initials: S
authors.lastname: Ismail
authors.forename: N A
authors.initials: NA
authors.lastname: Helmy
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D002648:Child; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology*; D003582:Cytogenetics; D004480:Ectromelia / Q000235:genetics* / Q000473:pathology*; D004534:Egypt; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome
chemical_list: D006570:Heterochromatin