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Prenatal Sonographic Dignosed Thanatophoric Dysplasia : Two Cases

Other Title
산전 초음파로 진단된 Thanatophoric Dysplasia
안, 은주; 정, 태영; 김, 미란; 양, 정인; 김, 행수; 오, 기석; 송, 찬호
Taehan Chusan Ŭihakhoe chapchi, 7(1):65-70, 1996
Journal Title
Taehan Chusan Ŭihakhoe chapchi; Korean journal of perinatology; 대한주산의학회잡지
Thanatophoric dysplasia is a diseae which is characterized by short-extremites, bowed long bone, narrow thorax and relatively large cranium.

Short-limbs, hypoplastic lung and macrocrania are diagnostic features in prenatal sonographic findings.

Its radiographic features are markedly flattened vertebral bodies, flat squat pelvis and short bowed bones of the extremities with flaring and irregularity of the metaphyses.

Thanatophoric dysplasia, osteogenesis imperfecta, and achondrogenesis account for the vast majority of cases associated with lethal short-limbed dysplasia seen prenatally.

We have experienced two cases of thanatophoric dysplasia which has been diagnosed by prental ultrasound.
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Obstetrics & Gynecology
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