Article
Genetically determined long bones deficiency - Roberts syndrome, a case report
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Published: | November 11, 2003 |
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Roberts syndrome, a genetically determined long bones deficiency inherited in an autosomal recessive way, was first described as phocomelia with cleft palate in 1919. Because of the similarity in clinical picture, Roberts syndrome is also called pseudo-thalidomide syndrome. In 40 % of cases the consanguinity of the parents has been stated.
The aim of the paper is to present clinical and radiological picture of Roberts syndrome in a newborn child.
The propositus is a newborn girl of healthy, non-related parents, from first pregnancy of physiological duration, first delivery, on time. Pedigree analysis didn't show either limb's defects or genetic diseases in the family. Clinically, the following symptoms were stated: symmetrical phocomely of both upper extremities, knee contracture, clubfoot and syndactyly. Facial dysmorphic features and cleft palate were also observed. In the performed radiological examination malformed, hypoplastic shoulder blade and bowed femur were bilaterally stated.
On the basis of the performed clinical and radiological examination, the Roberts syndrome was diagnosed. The case presented above is very interesting regarding both orthopaedic aspects and rareness of the occurrence.