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Keywords:

  • Seckel syndrome;
  • multidisciplinary;
  • dwarfism

Poster Presentation

  1. Top of page
  2. Poster Presentation

Background

Seckel syndrome is an extremely rare autosomal recessive genetic disorder that is a form of primordial dwarfism and was first described in 1960 by Dr. Sekel. Typically, intrauterine growth restriction is first identified in utero with a subsequent diagnosis of dwarfism. Physical features associated with this syndrome are microcephaly and unusual facial features, including large eyes, a narrow face, micrognathia, and a protruding nose similar to a bird's beak. These physical features cause a significant anesthesia risk. Patients may have varying degrees of mental retardation.

Case

The patient was a single 24-year-old G1P0 with Seckel syndrome. She lived with a family member and was developmentally delayed. She was referred to our Academic Medical Center for prenatal care at 23-week gestation. Of note, the patient was 3 ft 10 in. tall and weighed 71 pounds at her initial visit. A referral was made to the ear, nose, and throat (ENT) clinic due to a history of respiratory arrest during general anesthesia as a child requiring a tracheostomy. Septal deviation was noted with complete obstruction on the right. Her cesarean under regional anesthesia was scheduled, and plans were made for an awake intubation if general anesthesia was required. She could open her mouth 0.5 cm preoperatively.

The patient presented to labor and delivery (L&D) at 35 and 36 weeks to rule out labor. Nursing was unaware of this high-risk patient and was concerned about plans for her delivery. After these triage visits, a plan of care for delivery, including obstetrics (OBs), ENT, and anesthesia, was placed in her chart by maternal–fetal medicine. Unfortunately nursing was not included in development of this plan and therefore no plans were made for her postpartum care with a tracheostomy, a skill none of our staff was comfortable with. The patient arrived for a clinic visit at 37 4/7 weeks gestation in active labor and was sent to L&D. She gave birth in the adult operating room under general anesthesia with an awake tracheostomy prior to the cesarean. The patient went to medical intensive care unit (ICU) postoperatively then was transferred to the ENT unit on day 2 after the tracheostomy was decannulated. The mother and infant were discharged on postoperative day 3.

Conclusion

This is an example of the importance of having nursing representation when multidisciplinary plans of care are being established for high-risk OB patients. Care planning for high-risk patients should include potential complications of postpartum care including possible ICU admission and training for staff.