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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