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[Emergency cesarean in a patient with Coffin-Siris syndrome].

Abstract
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.
AuthorsI Fornet, P Morillas, M A López, F J Palacio, J M Aguilar, J L Mesa
JournalRevista espanola de anestesiologia y reanimacion (Rev Esp Anestesiol Reanim) Vol. 54 Issue 9 Pg. 563-5 (Nov 2007) ISSN: 0034-9356 [Print] Spain
Vernacular TitleCesárea urgente en una paciente con síndrome de Coffin-Siris.
PMID18085110 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (genetics)
  • Adult
  • Anesthesia, Spinal (methods, psychology)
  • Cesarean Section
  • Contraindications
  • Emergencies
  • Face (abnormalities)
  • Female
  • Fetal Distress (surgery)
  • Hand Deformities, Congenital (genetics)
  • Humans
  • Infant, Newborn
  • Intellectual Disability (genetics)
  • Intubation, Intratracheal
  • Micrognathism (genetics)
  • Neck (abnormalities)
  • Pregnancy
  • Pregnancy Complications (genetics)
  • Syndrome
  • Treatment Refusal

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