Roberts-SC phocomelia syndrome
Baggio, P.; Danda, R.; Audino, G.
La Pediatria Medica e Chirurgica Medical and Surgical Pediatrics 8(1): 115-119
1986
ISSN/ISBN: 0391-5387 PMID: 3725603 Document Number: 272948
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.