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Bone Abstracts (2017) 6 P093 | DOI: 10.1530/boneabs.6.P093

ICCBH2017 Poster Presentations (1) (209 abstracts)

A boy with spondylo-epiphyseal dysplasia tarda

Gülay Karagüzel & Emel Açikgöz

Karadeniz Technical University, School of Medicine, Trabzon, Turkey.

Background: Spondylo-epiphyseal dysplasia tarda (SEDT) is a rare late-onset X-linked recessive osteochondrodysplasia that mainly involves the epiphyses and vertebral bodies. Patients usually have short stature and early development of degenerative joint disease.

Presenting problem: A 12-year-old boy was referred to our hospital for evaluation of short stature. His height was 125 cm (−3.03 SDS), weight was 22 kg (−0.5 SDS), arm span 130 cm. The short stature became apparent at approximately 6 years of age. He had short neck, slight torticollis, x-bain deformity, and enlarged knees without joint pain. His motor and cognitive functions, and findings of other system examinations were normal. His mother was 141 cm. No other family members had a history of degenerative joint disease or hip joint replacement.

Clinical management: His serum concentration of insulin-like growth factor-1, calcium, phosphorus, alkaline phosphatase, parathormone, and thyroid hormones were normal. Serum acute-phase reactants were negative. Radiographs of patient showed flattening of the vertebral bodies and widening of the epiphyses of the knees. He did not reported back and hip pain or morning stiffness. He was in a milder clinical condition and a physiotherapy program was planned.

Discussion: Both radiological findings and family history are important for the diagnosis of X-linked SEDT. If the patients do not have a relevant family history or a clear radiographic findings, genetic analysis for confirmatory diagnosis of X-linked SEDT are important. A radiograph of the lateral lumbar vertebrae is helpful for screening of SEDT especially in boys with short stature after 6–8 years of age. SEDT should be taken into consideration in the differential diagnosis of JRA, because it gives rise to articular changes resembling JRA.

Disclosure: The authors declared no competing interests.

Volume 6

8th International Conference on Children's Bone Health


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