This book is now available in print on demand on the eyrolles.com website.
OrderBook written in French
This first French language book on development disorders (dysmorphology) highlights the need for close cooperation between paediatrician and geneticist when caring for children with rare syndromes.
While the huge technical progress made in the study of genes that now allows sequencing of the entire genome in just a few days has also been beneficial for the diagnosis of genetic syndromes, the clinical aspects of the diagnosis remain essential.
In many cases, it is only possible to interpret the genetic test results in the light of the patient's clinical data and family history. The identification of molecular causes has shed more light on these syndromes and their course and thus led to improvements in their management and the genetic counselling received by their families.
This book provides a classification by organ or by speciality, making it easy to read and retrieve the information sought. A complete description including the clinical signs and possible consequences is provided for each syndrome.
This book is intended for all paediatricians :
primary care paediatricians working with the relevant reference centre to care for children with rare diseases and hospital paediatricians diagnosing these conditions but also for doctors looking after disabled adults with dysmorphologic syndromes and those involved in antenatal diagnosis and foetal medicine.
CONTENTS :
1. Examining the dysmorphologic child
2. Noonan syndrome and related RASopathies
3. Alterations of the Sonic Hedgehog signalling pathway and
developmental "hedgehogpathies"
4. Microdeletion syndromes
5. Contribution of the new genome study technologies to
dysmorphology
6. Genetic syndromes with delayed physical development
7. Syndromes causing excessive growth
8. Marfanoid syndromes
9. Syndromes with obesity
10. Syndromes with congenital cardiopathies
11. Syndromes with renal abnormalities
12. Syndromes with gastrointestinal abnormalities
13. The eye and dysmorphologic syndromes
14. Main viable chondrodysplasias
15. Syndromes with craniostenosis
16. Syndromes causing limb malformations
17. Syndromes with predominantly neurological phenotype
18. Syndromes with cerebral malformations
19. Deafness and dysmorphology
20. Syndromes with cleft palate
21. Syndromes predisposing patients to tumour growth: Gorlin's
syndrome and Cowden's disease
22. Syndromes causing early death
23. Lysosomal diseases