Related Experiment Videos
Autosomal recessive Silver-Russell syndrome
1Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Clinical Dysmorphology
|July 1, 1992
Summary
Silver-Russell syndrome was identified in six children from consanguineous parents. The study suggests autosomal recessive inheritance for this growth disorder, characterized by specific physical features and normal development.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation.
- Genetic heterogeneity and variable inheritance patterns are reported in SRS cases.
- Consanguinity in parents has been implicated in certain genetic disorders.
Observation:
- Six children from consanguineous Arab parents presented with clinical manifestations consistent with Silver-Russell syndrome.
- Affected individuals exhibited intrauterine and postnatal growth retardation, lateral asymmetry, macrocephaly, a triangular face with prominent ears, fifth finger clinodactyly, and disproportionate toes.
- Psychomotor development was within the normal range for all affected children.
Findings:
- The familial aggregation of cases, parental consanguinity, and occurrence in both sexes strongly suggest an autosomal recessive mode of inheritance for SRS in this cohort.
- Minimal intrafamilial variability was observed, indicating a potentially consistent genetic influence.
Implications:
- This study contributes to understanding the genetic basis of Silver-Russell syndrome, particularly suggesting autosomal recessive inheritance in specific populations.
- Identifying the inheritance pattern is crucial for genetic counseling and understanding the recurrence risk in affected families.
- Further research into the specific genetic mutations underlying SRS in consanguineous families is warranted.