I型致死性骨发育不全：胎儿尸检的一例罕见病例报告。

Davanageri Reshma S, Shokeen Parul D, Bannur Hema B, Patil Kamal P

Department of Pathology, J.N. Medical College, Belgaum, Karnataka, India.

Department of Obstetrics and Gynaecology, J.N. Medical College, Belgaum, Karnataka, India.

J Lab Physicians. 2014 Jul;6(2):121-3. doi: 10.4103/0974-2727.141513.

Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up.

1型致死性骨发育不全是一种伴有骨骼发育异常的致死性先天性畸形。其特征为短肢侏儒症、头部增大伴额部隆起、颈部短、腹部突出。在妊娠早期通过超声检查可检测到。其他相关的解剖学异常和特征性实验室检查结果有助于早期诊断和进一步检查。