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[Silver-Russel Syndrome in aa 13-month old girl]
I Hajdas-Kudela1, E Jamroz, E Marszał
1II Katedry i Kliniki Pediatrii Slaskiej Akademii Medycznej w Katowicach.
Insights
This case study details a 13-month-old girl with Silver-Russell syndrome (SRS), a condition causing intrauterine growth retardation. SRS is characterized by low height, low birth weight, and body asymmetry, with unknown etiology possibly linked to early embryopathy.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Developmental Biology
Background:
- Silver-Russell syndrome (SRS) is a rare genetic disorder.
- It is characterized by intrauterine growth retardation (IUGR).
- The exact etiology of SRS remains largely unknown, with early embryopathy suggested.
Observation:
- A case of a 13-month-old female patient with SRS is presented.
- Key clinical features include low height, decreased birth weight, and normal gestational age.
- The patient also exhibited body asymmetry and craniofacial dysmorphy.
Findings:
- The case highlights the typical clinical manifestations of Silver-Russell syndrome.
- It underscores the diagnostic challenges due to unknown etiology.
- The presentation aligns with established criteria for SRS.
Implications:
- This case contributes to the understanding of SRS clinical presentation.
- Further research into the embryopathy of SRS is warranted.
- Early diagnosis and management are crucial for affected children.
Abstract:
The authors present a case of 13-month girl with Silver-Russel syndrome, which is an example of intrauterine growth retardation. The etiology of the disorder remains unknown, although many data suggest the embryopathy of the early gestational period. The main clinical features are: low height, decreased birth weight and normal gestational age. Body asymmetry and craniofacial dysmorphy.