Spondyloepiphyseal Dysplasia is a complex and life-altering condition, presenting not only significant physical challenges but also emotional and psychological

Generalized hypermobility has been known since ancient times, and a clinical description of Ehlers-Danlos syndrome (EDS) is said to have first been recorded by

Provides practical advice regarding the evaluation and management of disorders of behaviour and development as they confront clinicians in everyday practice.

The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Geneti