Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder with symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation and mental retardation. Patients with RS were reported to have premature separation of heterochromatin of many chromosomes. We report an infant whose clinical, radiologic and chromosomal findings resemble those of RS, with rudimentary gallbladder and accessory spleen. This patient may represent a variant of RS.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1399-0004.1994.tb04004.x | DOI Listing |
Publication Analysis
Top Keywords
roberts-sc phocomelia
8
phocomelia syndrome
8
syndrome case
4
case additional
4
additional anomalies
4
anomalies roberts-sc
4
syndrome autosomal
4
autosomal recessive
4
recessive disorder
4
disorder symmetric
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!