Defects » Syndromes
- A case of a variant Turner syndrome phenotype
- A case of aortic dissection in a pregnant patient with Marfan syndrome
- A case of auriculo-condylar syndrome
- A case of caudal regression syndrome
- A case of Cri du Chat syndrome
- A case of Crouzon Syndrome
- A case of familial Van der Woude syndrome and Popliteal Pterygium syndrome
- A case of heterotaxy syndrome
- A case of multiple pterygium syndrome
- A case of pentalogy of Cantrell
- A case of pseudoaminopterin syndrome
- A case of recurrent Bartter syndrome
- A case of Waardenburg syndrome
- A case of Zellweger Syndrome
- A previously unreported association between Noonan and related syndromes and anomalous left brachiocephalic vein
- Deafness genetic testing and prenatal diagnosis analysis of fourteen families
- Genetic diagnosis of severe fetal akinesia syndrome by means of whole exome sequencing
- Van der Woude syndrome family tree