Tetra-amelia and splenogonadal fusion in Roberts syndrome.
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.
de Ravel
T J
TJ
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa.
Seftel
M D
MD
Wright
C A
CA
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