title: Tetra-amelia and splenogonadal fusion in Roberts syndrome.
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.
authors.affiliation: Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa.
authors.forename: T J
authors.initials: TJ
authors.lastname: de Ravel
authors.forename: M D
authors.initials: MD
authors.lastname: Seftel
authors.forename: C A
authors.initials: CA
authors.lastname: Wright
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002972:Cleft Palate; D004480:Ectromelia / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008844:Micrognathism; D010053:Ovary / Q000002:abnormalities; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome