Abstract：
Thanatophoric dysplasia (TD) is a rare and severe type of skeletal dysplasia. Typical clinical findings include macrocephaly, shortening of the four limbs, underdeveloped lungs, and thoracic hypoplasia. Neonates with TD develop severe respiratory problems due to thoracic hypoplasia and require respiratory management for survival. Despite the resolution of respiratory problems, long-term survival cases are rare. Previous studies have reported that surgical procedures in patients with TD are limited to those necessary for survival, including tracheostomy, laminectomy, and ventricular shunt. A 1-year-old boy with TD was treated with laparoscopic herniorrhaphy. To the best of our knowledge, this is the first report of TD treated with laparoscopic procedure.
摘要：
断骨发育不良（TD）是一种罕见且严重的骨骼发育不良类型。典型的临床表现包括大头畸形，四肢缩短，不发达的肺，和胸部发育不全.患有TD的新生儿由于胸部发育不全而出现严重的呼吸问题，需要进行呼吸管理才能生存。尽管解决了呼吸问题，长期生存病例很少见。先前的研究报道，TD患者的外科手术仅限于生存所必需的手术，包括气管造口术,椎板切除术,和心室分流术.一名患有TD的1岁男孩接受了腹腔镜疝修补术。据我们所知,这是腹腔镜手术治疗TD的首例报道.
