title: Spondyloenchondrodysplasia: a rare cause of short stature.
abstract: 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.
authors: Department of Endocrinology and Diabetes, Kocaeli University Faculty of Medicine, Turkey.
authors: Gül
authors: G
authors: Yeşiltepe-Mutlu
authors: Elif
authors: E
authors: Ozsu
authors: Filiz Mine
authors: FM
authors: Cizmecioğlu
authors: Yasemin
authors: Y
authors: Alanay
authors: Sükrü
authors: S
authors: Hatun
mesh_terms: D001327:Autoimmune Diseases / Q000000981:diagnostic imaging*; D001827:Body Height; D002648:Child; D003241:Consanguinity; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography