gms | German Medical Science

67. Jahrestagung der Deutschen Gesellschaft für Unfallchirurgie
89. Tagung der Deutschen Gesellschaft für Orthopädie und Orthopädische Chirurgie
44. Tagung des Berufsverbandes der Fachärzte für Orthopädie

11. bis 16.11.2003, Messe/ICC Berlin

Genetically determined long bones deficiency - Roberts syndrome, a case report

Meeting Abstract (DGOOC 2003)

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  • corresponding author Maciej Glowacki - University of Medical Sciences, Poznan, 28 Czerwca 1956 No 135/147, 61-454, Poznan, Phone: 0048 (61) 83-10-375, Fax: 0048 (61 83-10-173
  • A. Ignys - University of Medical Sciences, Poznan, 28 Czerwca 1956 No 135/147, 61-454, Poznan, Phone: 0048 (61) 83-10-375, Fax: 0048 (61 83-10-173
  • I. Ignys - University of Medical Sciences, Poznan, 28 Czerwca 1956 No 135/147, 61-454, Poznan, Phone: 0048 (61) 83-10-375, Fax: 0048 (61 83-10-173

Deutsche Gesellschaft für Unfallchirurgie. Deutsche Gesellschaft für Orthopädie und orthopädische Chirurgie. Berufsverband der Fachärzte für Orthopädie. 67. Jahrestagung der Deutschen Gesellschaft für Unfallchirurgie, 89. Tagung der Deutschen Gesellschaft für Orthopädie und Orthopädische Chirurgie und 44. Tagung des Berufsverbandes der Fachärzte für Orthopädie. Berlin, 11.-16.11.2003. Düsseldorf, Köln: German Medical Science; 2003. Doc03dguX-110

The electronic version of this article is the complete one and can be found online at: http://www.egms.de/en/meetings/dgu2003/03dgu1114.shtml

Published: November 11, 2003

© 2003 Glowacki et al.
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Outline

Text

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.