Test yourself: a 9-year-old child with short stature and incidental trauma associated with bone fractures

Abstract

Sclerosing bone dysplasias are a disorder group with a range of manifestations. Before 1997, these diagnoses depended entirely on clinical, radiodiagnosis, and morphological criteria, with short stature and osteosclerosis manifesting simultaneously, and included conditions such as osteosclerosis, osteopetrosis, and osteopathia striata, along with pycnodysostosis [1,2].Pycnodysostosis is a rare genetic disorder resulting from a mutation in the CTSK gene, leading to the absence of active cathepsin K enzyme, responsible for breaking down the organic matrix of bones, bone resorption, and remodeling in osteoclasts [3,4].The diagnosis of pycnodysostosis can be identified by clinical and radiographic features, not necessarily requiring genetic molecular testing confirmation [2]. As compared to radiographs, CT can provide greater anatomical detail and increase diagnostic accuracy [3]. Despite advances in genetic understanding of sclerosing bone dysplasias, radiology remains fundamental in diagnosis [1].Approximately 200 cases have been reported in medical literature, affecting about 1-1.7 individuals/million [1]. Brazil, India, and Israel have the highest prevalence, with Asia having the highest number (40%), followed by Europe (28%) and South America (17%) [5].Short stature, multiple fractures, cranial dysplasia, open anterior fontanelle with delayed closure of sutures, obtuse mandibular angle, multiple orofacial manifestations, aplastic acromial ends, total or partial dysplasia of the terminal phalanges, and increased bone density characterize this condition. Although other features are described in the literature, such as wrinkled skin, nail abnormalities, kyphosis, scoliosis, a history of recurrent pulmonary infections, and sleep apnea, they are not commonly found [2,3]. Multiple fractures are frequent because of extremely fragile andThe case presentation can be found at