Background: Short stature is defined as height below the 3rd percentile for the child’s sex and age. Several etiologies should be considered including chronic illnesses, genetic conditions and hormonal disorders. Physical examination of the short child may provide the general pediatrician hints of an underlying skeletal abnormality. Methods: In April 2018, the Metabolic-bone, Endocrine and Genetic (MEG) Clinic was founded in Dana-Dwek`s Children`s Hospital. Children with clinical signs suggestive of bone disorder are referred for multi-professional and multidisciplinary team investigation. Sample cases: An 11.5 year-old girl was referred due to short stature and brachydactyly. She had developmental delay, dysmorphism and was diagnosed with congenital hypothyroidism. Hand radiography revealed marked brachydactyly and advanced bone age. Laboratory workup identified remarkably elevated PTH levels. Clinical and genetic diagnosis of pseudohypoparathyroidism type 1a was established. A 9 year-old boy was referred due to short stature and macrocephaly. He had normal cognitive developmental and mildly delayed motor development. Anthropometric measurements demonstrated an elevated upper-to-lower segment ratio. Skeletal survey revealed mildly enlarged neurocranium, normal vertebral bodies height with narrowing of the interpediculate distance and anterioposterior shortening of pedicles. Clinical diagnosis of hypochondroplasia was established, genetic analysis is pending. Conclusions: Skeletal dysplasias are heterogeneous genetic disorders characterized by a spectrum of abnormalities in cartilage and bone. Precise diagnosis based upon clinical and radiographic features is important to predict growth potential, expected complications, and treatment, and to allow genetic counselling. Long-term management of these complex disorders is best served by a cooperative team approach.
