The Turkish Journal of Pediatrics 2011 , Vol 53 , Num 4
Spondyloenchondrodysplasia: A Rare Cause of Short Stature
Departments of 1Endocrinology and Diabetes, Kocaeli University Faculty of Medicine, Kocaeli, and 2Medical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey Yeşiltepe-Mutlu G, Özsu E, Çizmecioğlu FM, Alanay Y, Hatun Ş. Spondyloenchondrodysplasia: a rare cause of short stature. Turk J Pediatr 2011; 53: 464-466.

Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature. History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigated. Spondyloenchondrodysplasia is a very rare skeletal dysplasia characterized with enchondromas in the long bones and platyspondyly. Manifestation of the disorder may include neurological involvement (spasticity, intracranial calcifications and mental retardation) and immune dysfunction. Herein, we report a 12-year-old boy who admitted to our clinic with short stature, who was born to consanguineous parents. He presented clinical (significant widening of wrists, ankles and knees) and radiologic (enchondromatous lesions in the metaphysis of long bones) features of spondyloenchondrodysplasia but did not yet have neurologic or immunologic involvement. Keywords : skeletal dysplasia, spondyloenchondrodysplasia, enchondroma.

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