[Roberts-SC phocomelia syndrome].
Roberts syndrome and SC phocomelia syndrome represent two malformative syndromes that, considering the presence of many common characteristics, are actually treated as one pathological entity. These syndromes have a chromosomal abnormality in common resulting from an premature centromere splitting in prometaphase. A review of salient features and a case diagnosed in the neonatal period is reported.
D001842:Bone and Bones / Q000000981:diagnostic imaging; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D011859:Radiography; D013577:Syndrome
La sindrome di Roberts-SC focomelia.