Guu W S, Hsu T T, Chang S Y, Chang J C, Huang C C
Department of Obstetrics & Gynecology, Chang Gung Memorial Hospital, Kaohsiung, Taiwan, R.O.C.
Changgeng Yi Xue Za Zhi. 1996 Sep;19(3):258-63.
Thanatophoric dysplasia is one of the most common skeletal dysplasia, with an incidence from 1:6,400 to 1:100,000 births. While the etiology is unknown, either autosomal recessive or polygenic transmission with 0.2% recurrence risk had been suggested. It is a lethal disorder characterized by extremely short ribs, tubular bones and macrocephaly. Death is often secondary to pulmonary hypoplasia caused by the small thoracic cavity. We present a fetus with shortening of four limbs, typical thanatophoric dwarfism, diagnosed by sonography at the 25th week of gestation. The second trimester diagnosis by ultrasound was crucial, because it gave an alternative option of pregnancy termination when the affected fetus was discovered.
致死性侏儒症是最常见的骨骼发育不良之一，发病率为1/6400至1/100000活产儿。虽然病因不明，但有人提出是常染色体隐性遗传或多基因遗传，复发风险为0.2%。这是一种致命性疾病，其特征为肋骨、管状骨极度短小以及巨头畸形。死亡通常继发于胸腔狭小导致的肺发育不全。我们报告一例妊娠25周时经超声诊断为四肢短小、典型致死性侏儒症的胎儿。孕中期超声诊断至关重要，因为当发现胎儿受累时，可为终止妊娠提供另一种选择。
