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A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs
- Source :
- Clinical Genetics. 49:274-276
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- Roberts syndrome is a rare autosomal recessive condition characterized by growth retardation, cranio-facial abnormalities and symmetrical limb reduction of variable severity. Most patients with Roberts syndrome show a typical cytogenetic finding known as "Roberts syndrome effect". We describe a 4-month-old patient with a mild form of this syndrome, who presented with an asymmetrical reduction of the right upper limb.
- Subjects :
- medicine.medical_treatment
Limb reduction
Phocomelia
Bone and Bones
Genetics
Humans
Medicine
Abnormalities, Multiple
natural sciences
Mild form
Roberts syndrome
health care economics and organizations
Genetics (clinical)
Reduction (orthopedic surgery)
Ultrasonography
Growth retardation
business.industry
Roberts-SC phocomelia syndrome
Infant
Syndrome
social sciences
Anatomy
medicine.disease
humanities
body regions
medicine.anatomical_structure
Arm
Upper limb
Female
business
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 49
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....22685cc6868dff053e39432549abd72e