Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report

摘要

Background Roberts syndrome (Pseudothalidomide) is a rare birth defect that causes severe bone malformation complex. The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The fingers of the hands may be fused. An extreme case results in the absence of the upper bones of both the arms and legs so that the hands and feet appear attached directly to the body. This is called tetraphocomelia. Case presentation We report on a two-year-old boy of Austrian origin who manifests a constellation of malformation complex include prenatal and postnatal growth retardation, craniofacial anomalies and defective development of all four extremities. The overall clinico-radiographic features were compatible with Roberts syndrome (Pseudothalidomide). Significant unilateral femoral-tibial synostosis was additional malformation. Conclusion Associated malformations and symptoms may be the key factor in the differential diagnosis of neonatal malformation complex. Roberts's syndrome may be genetically transmitted within families as an autosomal recessive trait or may be the result of spontaneous/sporadic changes in the gene. Because the signs of the disorder so closely mimic those caused by the ingestion of thalidomide, the term "pseudo-thalidomide" is frequently used. In this report we describe total femorotibial fusion in a child manifesting the phenotypic features consistent with Roberts syndrome from a healthy parents but first cousins in Austria. Aggressive medical intervention is of prime importance, as is forthright parental counselling when discussing the possible outcome for these patients.