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Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2006

Temtamy S A, Ismail S, Helmy N A

Abstract excerpt

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...

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PMID: 16719272

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