Fornet I, Morillas P, López M A, Palacio F J, Aguilar J M, Mesa J L
Servicio de Anestesiología y Reanimación, Hospital Universitario La Paz, Maternidad, Madrid.
Rev Esp Anestesiol Reanim. 2007 Nov;54(9):563-5.
Coffin-Siris syndrome is a rare genetic disease characterized by coarse facial features, sparse scalp hair, hirsutism, hypoplasia of the distal phalanges, hypoplastic nail in the fifth digit, and mental retardation and delayed growth evident in both weight and height. Most cases are sporadic, but the possibility of recessive or dominant autosomal inheritance has been suggested. Facial abnormalities that make intubation difficult and mental retardation that interferes with cooperation are aspects of this disease that can affect the choice of type of anesthesia. We report the case of a parturient with Coffin-Siris syndrome who refused epidural analgesia for labor pain and for whom the obstetrician later decided that an emergency cesarean was necessary due to fetal distress.
科芬-西里综合征是一种罕见的遗传性疾病,其特征为面部粗糙、头皮毛发稀疏、多毛症、远端指骨发育不全、第五指指甲发育不良,以及体重和身高方面明显的智力发育迟缓与生长发育延迟。大多数病例为散发性,但也有人提出隐性或显性常染色体遗传的可能性。导致插管困难的面部异常以及妨碍配合的智力发育迟缓是该疾病可能影响麻醉方式选择的方面。我们报告一例患有科芬-西里综合征的产妇,她拒绝硬膜外分娩镇痛,之后由于胎儿窘迫,产科医生决定进行急诊剖宫产。