A sibship with Roberts/SC phocomelia syndrome
β Scribed by Holmes-Siedle, Monica ;Seres-Santamaria, Agustin ;Crocker, Mark ;Hall, Judith G. ;Crouchman, Marion
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 543 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0148-7299
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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
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