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Roberts' — SC phocomelia syndrome with cytogenetic findings

✍ Scribed by Peter Leonard; John Rendle-Short; Lyn Skardoon


Book ID
104813189
Publisher
Springer
Year
1982
Tongue
English
Weight
233 KB
Volume
60
Category
Article
ISSN
0340-6717

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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

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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