Abstract
Skeletal dysplasias or osteochondrodysplasia are a heterogeneous group of conditions which affect bone development. Patients affected by this condition present a growth retardation, developing disproportionate short stature. The intelligence is preserved. This case report describes a 3-month-old male patient with atypical face, appropriate neuropsychomotor development, short stature for his age (z-score between -2 and -3) and disproportion between limbs; associated with early radiological manifestations that fall within the spectrum of osteochondrodysplasia, specifically the multiple epiphyseal dysplasia or pseudoachondroplasia subtypes. The importance of providing an early diagnosis lies in the possibility of following adverse events, such as delay of motor development, spinal stenosis, premature osteoarthritis, limited range of motion, kyphoscoliosis and ligaments limpness.
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