Diastrofik Displazi: Vaka Sunumu

Abstract

Diastrofik displazi (DTD) orantısız boy kısalığı, normal baş çevresi, eklem deformiteleri ve otostopçu parmağıyla karakterize nadir görülen bir sendromdur. Diğer tipik bulgular parmakların ulnar deviasyonu, birinci ve ikinci ayak parmakları arasının açık olması, pes ekinovarus ve dış kulağın kistik yapısıdır. Otozomal resesif olarak kalıtılır. Tanı; klinik ve radyolojik bulgularla konulur. Beşinci kromozom üzerindeki DTDST hastalıkla ilgili bilinen tek gendir. Bu genin moleküler analizi ile tanı desteklenebilir.Burada ekstremite ve orantısız boy kısalığı, eklemlerinde deformite ve hareket kısıtlılıkları sebebiyle çeşitli ön tanılar almış, diastrofik displazili 6 yaş 3 aylık bir erkek hastayı sunuyoruz.

Keywords

• Diastrofik Displazi, boy kısalığı, ekstremite kısalığı, otostopçu başparmağı

DIASTROPHIC DYSPLASIA: CASE REPORT

Abstract

Diastrophic dysplasia (DTD) is a rare syndrome which is characterized by disproportionate short stature, normal-sized skull, joint deformities, and hitch-hiker thumbs. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, clubfoot, and cystic swelling of the pinnae. DTD is inherited autosomal recessively. The diagnosis of DTD depends upon a combination of clinical and radiologic features. The diagnosis is confirmed by molecular genetic testing of DTDST (SLC26A2), the only gene known to be associated with DTD.We report here a 6-years and 3-months-old boy who was wrongly diagnosed for various diseases due to his limb shortening, disproportionate short stature, joint deformities, and limited movement

Keywords

• Diastrophic dysplasia, short stature, limb shortening, hitch-hiker thumbs

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