Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients
โ Scribed by Evelyn Sanderson, Vanessa Newman, Susan F. Haigh, Alastair Baker, Paul S. Sidhu
- Publisher
- Springer-Verlag
- Year
- 2002
- Tongue
- English
- Weight
- 162 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0301-0449
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract Congenital heart defects (CHDs) have been estimated to occur in โผ20% of patients with Brachmannโde Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients
## Abstract A woman with apparent 45,X UllrichโTurner syndrome was ascertained after the birth of three girls, the last being growth retarded due to a del(X)(p22.11) of grandโpaternal origin. In this woman no del(X)โchromosome was detectable in blood by FISH or PCR. Fibroblast cultures from four di