Klediokranyal displazili olgularımızda endokrinolojik bulgular

Amaç: Klediokranyal displazi iskelet ossifikasyonu ve diş gelişimini etkileyen, otozomal dominant kalıtılan bir hastalıktır. Klediokranyal displazinin başlıca semptomları açık fontanel, klavikulaların hipoplazisi veya yokluğu, dar pelvis, geniş simfizis ve kısa boydur. Olgu sunumu: Bu yazıda klediokranyal displazili olgularımızdaki endokrinolojik bulguları sunduk. Sonuç: Klediokranial displazili olgularda endokrinolojik bozukluklar diğer iskelet displazilerine göre muhtemelen daha sık görülmektedir.

The endocrinological findings in our cases with cleidocranial dysplasia

Objective: Cleidocranial dysplasia is an autosomal dominant disorder affecting skeletal ossification and tooth development. The main symptoms of cleidocranial dysplasia patients are open fontanelles, hypoplasia or aplasia of the clavicles, a wide pubic symphysis, a narrow pelvis and short stature. Case report: Herein, we presented the endocrinological findings in our cases with cleidocranial dysplasia. Conclusion: The endocrinological disorders in the cases with cleidocranial dysplasia are likely seen more frequent than other cases with skeletal dysplasia.

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