The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.

摘要: A 1-month-old boy with shortness of extremities on prenatal US was referred to our department a provisional diagnosis achondroplasia. His height normal but he had short and platyspondyly, premature carpal epiphyses both hands, tubular bones irregular metaphyses radiographs. Re-evaluation the patient at age 1 year revealed very calcification costal cartilages epiphyses. Spondylometaepiphyseal dysplasia (SMED), limb-abnormal type diagnosed. This condition is rare autosomal recessively inherited disorder, most patients die in early childhood due neurological involvement. At 2 years 5 months, CT scan showed narrowing cervical spinal canal. One month later died suddenly because cord injury. In conclusion important recurrence risk high may complications. The time onset abnormal calcifications, diagnostic finding disease, around patients. When calcifications are not yet present, radiological changes associated SMED this disease must be considered.