Roberts-SC phocomelia syndrome

Authors
Musfeld, DA Buhler, EM Heinzl, S
Citation
Da. Musfeld et al., Roberts-SC phocomelia syndrome, GYNAKOL GEB, 41(1), 2001, pp. 3-7
Citations number
22
Categorie Soggetti
Reproductive Medicine
Journal title
GYNAKOLOGISCH-GEBURTSHILFLICHE RUNDSCHAU
ISSN journal
10188843 → ACNP
Volume
41
Issue
1
Year of publication
2001
Pages
3 - 7
Database
ISI
SICI code
1018-8843(200106)41:1<3:RPS>2.0.ZU;2-2
Abstract
The Roberts-SC phocomelia syndrome is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growt h retardation, and craniofacial abnormalities (skull, eyes, lip, and palate ), accompanied at times by centromer puffing and splitting, renal abnormali ties, heart defect, clitoral or penile enlargement, and bilateral corneal o pacities. Mental retardation is common in surviving patients.