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Tetra-amelia and splenogonadal fusion in Roberts syndrome
T J de Ravel1, M D Seftel, C A Wright
1Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa.
American Journal of Medical Genetics
|January 20, 1997
Abstract:
Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies. We report on a female infant with severe tetra-amelia, micrognathia, cleft palate, splenogonadal fusion, and premature centromere separation. We propose that this represents the severe expression of the Roberts-SC phocomelia syndrome.