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A sibship with Roberts/SC phocomelia syndrome
M Holmes-Siedle1, A Seres-Santamaria, M Crocker
1Department of Medical Genetics, Churchill Hospital, Oxford, United Kingdom.
American Journal of Medical Genetics
|September 1, 1990
Insights
Three siblings were diagnosed with Roberts/SC phocomelia syndrome, a rare genetic disorder. This report details the syndrome's clinical features and natural history, noting one child's survival to nine years old.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Roberts/SC phocomelia syndrome is a rare, severe congenital disorder characterized by limb malformations.
- Understanding the genetic basis and phenotypic spectrum is crucial for diagnosis and management.
Observation:
- A family with three affected siblings diagnosed with Roberts/SC phocomelia syndrome is presented.
- Detailed clinical manifestations observed in the affected individuals are documented.
Findings:
- The study reviews the clinical manifestations and natural history of Roberts/SC phocomelia syndrome.
- One affected child survived to nine years of age, providing insights into long-term outcomes.
Implications:
- This case series contributes to the understanding of Roberts/SC phocomelia syndrome's variability.
- Further research into the genetic underpinnings and therapeutic strategies for this syndrome is warranted.
Abstract:
We report on a family in which 3 sibs have Roberts/SC phocomelia syndrome. One child has survived to age 9 years. The clinical manifestations and the natural history of this syndrome are reviewed.