Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphisms

Chapter

ABSTRACT

Synonyms: JDSCD (multiple joint dislocations, short stature and craniofacial dysmorphism with or without congenital heart defects; B3GAT3 deficiency), PPD, pseudodiastrophic dysplasia

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphisms and Skeletal Dysplasia, with or without Heart Defects (Pseudodiastrophic Dysplasia), B3GAT3-Related

ABSTRACT