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Morquio A syndrome: differential diagnosis of disproportionate short stature

Short stature is defined as a condition in which the height of the individuals is below the third percentile or two standard deviations below the expected average for children of the same age and sex. Bone dysplasias are an important group in the differential diagnosis in children with short stature and, among them, Morquio A syndrome, a genetic-metabolic disease, characterized by an enzyme deficiency and lysosomal accumulation with a direct impact on bone development and cartilaginous. Often, this pathology goes unnoticed by the endocrinologist or pediatrician when evaluating children with short stature, mainly because the classical signs and symptoms of the disease are not yet evident. Morquio A syndrome is not curable, but early diagnosis and treatment make it possible to prevent disease progression and provide better quality of life for patients. The currently available treatments are hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (TRE). In addition, due to the various disabling comorbidities that can arise with evolution, a multidisciplinary approach is essential. Knowledge of genetic causes of short stature due to alteration in bone development is fundamental for the clinical suspicion of this group of diseases. This article aims to report the case of three siblings with the syndrome, whose diagnosis of two of these patients took more than two decades to be established.