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Case Report

Ann Med Res. 2007; 14(4): 275-277


Achondrogenesis Type 1A: Case Report

 

Ekrem Güler*, Hamza Karabiber*, Murat Uzel**, Mehmet Davutoğlu*

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Abstract


 

Achondrogenesis which can cause intrauterine bone fractures and accompanied fatal courses were discussed by literatures.

Achondrogenesis is a rare congenital syndrome characterized by extreme micromelia, short trunk, and a disproportionately large cranium and inherited with an autosomal recessive pattern. We present a case, after his birth, in a patient who was referred to our department due to dyspnea, abnormal findings (extreme micromelia, short trunk, intrauterine bone fracture, and a disproportionately large cranium) in his clinical and radiologically examination, achondrogenesis type 1A was diagnosed clinically and radiologically.

Achondrogenesis is inherited autosomal recessive pattern and lethal diseases. So; family history and prenatal diagnosis is very important in achondrogenesis.

Key Words: Achondrogenesis, Intrauterine bone fracture, Skeletal dysplasia

 






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