Bone Abstracts

Background: Skeletal dysplasias include many pathological conditions that involve bone metabolism and health and most of them are associated with short stature. 211 genes are associated with bone dysplasia and short stature. Presenting problem: To present a boy with severe short stature and skeletal abnormalities. He was born at term AGA. Growth failure was noted from the age of 8 months. IGF-I levels were low and he was tested for growth hormone deficie...

Background: Short stature is a very common reason for referral to a pediatric endocrinologist. Endocrine and non endocrine causes are involved. Short stature can be classified as symmetrical or non-symmetrical. Numerous monogenic causes of growth disorders have been identified.Presenting problem: To present two brothers with familial spondyloepiphyseal dysplasia presenting with short stature and very low growth velocity starting at the age of 8 years. Th...