𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Roberts-SC phocomelia syndrome: a case with additional anomalies

✍ Scribed by Mehmet Satar; Aytuğ Atici; Ufuk Bişak; Nurdan Tunali


Book ID
115091493
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
156 KB
Volume
45
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A sibship with Roberts/SC phocomelia syn
✍ Holmes-Siedle, Monica ;Seres-Santamaria, Agustin ;Crocker, Mark ;Hall, Judith G. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 543 KB
The SC phocomelia syndrome: Report of tw
✍ Qazi, Q. H. ;Kassner, E. G. ;Masakawa, A. ;Madahar, C. ;Choi, S. J. ;Opitz, John 📂 Article 📅 1979 🏛 John Wiley and Sons 🌐 English ⚖ 443 KB 👁 2 views

We report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. One sib had bilateral humero-ulnar and femoro-tibia1 synostosis (absence of the elbow and knee joints). Application of the nosologic criteri

Prenatal detection of Roberts-SC phocome
✍ Robins, David B. ;Ladda, Roger L. ;Thieme, Gary A. ;Boal, Danielle K. ;Emanuel, 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 560 KB

We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat scan at 17 weeks detected tetraphocomelia. Ultrasonography can reliably detect Roberts-SC phocomelia prenatally; however, serial sc