Publications by authors named "Karine Bourdet"
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Knowledge of the neuropsychological profile of SRS remains sparse and incomplete even if several difficulties related to attention and learning have been reported both in the literature and by patients with SRS.
View Article and Find Full Text PDFSilver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. Despite normal intellectual functioning, psychosocial and behavioral difficulties have been observed in this syndrome. However, few studies have dealt with these aspects, even though this could enhance the current understanding of the SRS and, more importantly, improve the management of potential psychosocial problems.
View Article and Find Full Text PDFObjectives: Noonan syndrome is a rare genetic disorder characterized mainly by congenital heart disease, occasional intellectual disability, and varied orthopaedic, rheumatological and haematologic anomalies. Despite potentially serious functional consequences, joint involvement has been rarely studied in the literature. Our objective was to perform a retrospective study evaluating the prevalence and characteristics of joint involvement in Noonan syndrome.
View Article and Find Full Text PDFArticle Synopsis
- The study focuses on the features and genetic factors of primary hyperparathyroidism (PHPT) in children, analyzing data from 63 cases over 20 years.
- Infants often show milder and asymptomatic forms of PHPT, while older children exhibit more nonspecific symptoms, and about 52% of cases have a genetic basis.
- Genetic mutations related to calcium-sensing are prevalent in infants, whereas mutations affecting parathyroid cell growth are more common in older children, highlighting different underlying mechanisms in various age groups.
Background: Genetic cases of isolated central diabetes insipidus are rare, are mostly due to dominant AVP mutations and have a delayed onset of symptoms. Only 3 consanguineous pedigrees with a recessive form have been published.
Case Report: A boy with a negative family history presented polyuria and failure to thrive in the first months of life and was diagnosed with central diabetes insipidus.