Résumé
OBJECTIVE@#To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome).@*METHODS@#Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of the child and her parents.@*RESULTS@#NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene, which resulted in a frameshift p.V1918Efs*87. The same variant was detected in neither parent.@*CONCLUSION@#The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child. Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.
Sujets)
Enfant , Femelle , Humains , Nourrisson , Famille , Dépistage génétique , Hétérozygote , Déficience intellectuelle/génétique , MutationRésumé
Objective To assess the sensitivity of indices of hip development in children with spastic diple-gia resulting from cerebral palsy. Methods X-ray images of the hips of 57 children with cerebral palsy ( the cere-bral palsy group) were checked, and the acetabular index ( AI), femur head migration percentage ( MP), center-edge angle and neck-shaft angle (NSA) were compared with those of normal children ( the control group, n = 30).Results The differences in MP and NSA between the two groups were significant. The prevalence of hip subluxation was 20.45% among the children with spastic diplegia who could not walk independently, and the prevalence was sig-nificantly greater in children 3 to 5 years old than among those under 3. Conclusion The MP can be used as a sen-sitive index to evaluate hip development. Age is a relevant factor affecting the hip development of children with cere-bral palsy.