Abstract
ObjectiveTo report a Buschke-Ollendorff syndrome case with disproportionate short stature and literature review; recognizing this clinical entity as an infrequent bone dysplasia, which requires a cautious clinical evaluation, bearing in mind not to realize unnecessary or costly procedures. Case descriptionThis case report presents a seven-year-old patient with Buschke-Ollendorff syndrome (multiple radiopacity foci due to sclerotic nodular lesions of endostic predominance on proximal metaphyseal and epiphyseal regions of long bones predominantly, with right hand and intergluteal hamartomas), disproportionate short stature, midfacial hypoplasia, high palate and mesomelia, with a normal neurodevelopment, it has not been possible to carry out genetic tests. CommentsThe Buschke-Ollendorff syndrome (OMIM 166700) is an association of osteopoikilosis and cutaneous hamartomas. It's caused by a mutation in the gene LEMD3 12q14.3, which encodes the nuclear protein LEMD3, that is involved in the osteo morphogenesis. In literature we found the microdeletion syndrome on 12q14, consisting of mild mental retardation, proportionate short stature and osteopoikilosis.
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