Orphanet journal of rare diseases · 2026
Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Świąder-Leśniak Anna, Jurkiewicz Dorota, Madej-Pilarczyk Agnieszka, Chrzanowska Krystyna
Аннотация
BACKGROUND: Silver-Russell syndrome (SRS) is a rare congenital imprinting disorder associated with the loss of methylation in H19/IGF2:IG-DMR at chromosome 11p15.5 (11p15 LOM) or maternal uniparental disomy of chromosome 7 (upd(7)mat).
METHODS: Longitudinal analysis of somatic development was performed in 99 Polish patients with Silver-Russell syndrome: 82 (82.8%) with 11p15 LOM, 17 (17.2%) with upd(7)mat, without growth hormone therapy. All patients were assessed by a clinical geneticist and molecular tests were taken. Birth parameters were analyzed. Weight, height, BMI, and chest-to-head proportions were collected cross-sectionally and in different stages of development (every year, until the age of 16-18y).
RESULTS: ROC analysis showed good diagnostic performance of head-chest proportionality indices in distinguishing SRS patients from SGA patients at birth. The difference between head and chest circumference demonstrated an AUC of 0.840 (95% CI 0.768-0.912), increasing to 0.850 (95% CI 0.771-0.929) after exclusion of preterm infants, while the chest-to-head ratio showed an AUC of 0.812 (95% CI 0.732-0.892) and 0.827 (95% CI 0.741-0.912), respectively. These simple indices, derived from routine neonatal measurements, may support early identification of SRS among SGA infants. Moreover chest-to-head circumference proportion in SRS patients does not change until the age of 9 years in boys and 8 years in girls. Long-term studies showed that body height, weight, weight-for-height, and BMI were higher in patients with 11p15LOM up to the age of 10-12; however, this trend reverses later in favor of the upd(7)mat group.
CONCLUSION: The introduction of head and chest circumference measurement into routine clinical examination may be useful, especially when the diagnosis of SRS is based solely on clinical symptoms. Long-term studies have shown a tendency for changes in body weight, height, and BMI depending on age and molecular abnormalities.
METHODS: Longitudinal analysis of somatic development was performed in 99 Polish patients with Silver-Russell syndrome: 82 (82.8%) with 11p15 LOM, 17 (17.2%) with upd(7)mat, without growth hormone therapy. All patients were assessed by a clinical geneticist and molecular tests were taken. Birth parameters were analyzed. Weight, height, BMI, and chest-to-head proportions were collected cross-sectionally and in different stages of development (every year, until the age of 16-18y).
RESULTS: ROC analysis showed good diagnostic performance of head-chest proportionality indices in distinguishing SRS patients from SGA patients at birth. The difference between head and chest circumference demonstrated an AUC of 0.840 (95% CI 0.768-0.912), increasing to 0.850 (95% CI 0.771-0.929) after exclusion of preterm infants, while the chest-to-head ratio showed an AUC of 0.812 (95% CI 0.732-0.892) and 0.827 (95% CI 0.741-0.912), respectively. These simple indices, derived from routine neonatal measurements, may support early identification of SRS among SGA infants. Moreover chest-to-head circumference proportion in SRS patients does not change until the age of 9 years in boys and 8 years in girls. Long-term studies showed that body height, weight, weight-for-height, and BMI were higher in patients with 11p15LOM up to the age of 10-12; however, this trend reverses later in favor of the upd(7)mat group.
CONCLUSION: The introduction of head and chest circumference measurement into routine clinical examination may be useful, especially when the diagnosis of SRS is based solely on clinical symptoms. Long-term studies have shown a tendency for changes in body weight, height, and BMI depending on age and molecular abnormalities.