Emergent Cesarean Delivery in a Patient With Freeman-Sheldon Syndrome Complicated by Preeclampsia, Acute Pulmonary Embolism, and Pulmonary Edema: A Case Report

Abstract

Freeman-Sheldon syndrome (FSS) is an exceedingly rare congenital disorder with an unspecified prevalence. FSS is caused by a mutation in the embryonic skeletal muscle myosin heavy chain 3 gene. Patients may have facial abnormalities that put them at risk of difficult airway intubation. These facial abnormalities include micrognathia, macroglossia, high-arched palate, prominent forehead, and mid-face hypoplasia. Additionally, skeletal abnormalities such as joint contractures, scoliosis with resultant restrictive lung disease, and camptodactyly (bent fingers) can be noted. These features played an important role in the anesthetic management of our FSS patient. Perioperative planning and optimization were crucial in her anesthetic management as she underwent an urgent cesarean section due to preeclampsia with severe features.

Obstetrics and Diagnosis in Freeman-Burian syndrome

“…The authors describe inheritance of FBS as being mainly autosomal and X-linked recessive, [1] but it is believed that inherited cases either have a parent with clinical evidence of FBS or rarely are germline mosaicisms [3][4]8]. Most cases, however, are not inherited (sporadic).…”

“…[3][4] The authors also do not suggest how to diagnose FBS and omit the diagnostic criteria (microstomia, pursed lips, deep nasolabial folds, and H or V-shaped chin defect and two major arthrogryposes typically, camptodactyly with ulnar deviation and equinovarus). [1,[3][4] They specify a few common findings, some of which are included in the diagnostic criteria, but most are not. [1,[3][4] Not suggesting a diagnostic pathway, omitting the diagnostic criteria, and listing non-diagnostic findings can confuse the reader unfamiliar with FBS.…”

“…[1,[3][4] They specify a few common findings, some of which are included in the diagnostic criteria, but most are not. [1,[3][4] Not suggesting a diagnostic pathway, omitting the diagnostic criteria, and listing non-diagnostic findings can confuse the reader unfamiliar with FBS.…”

Misinformation and Misdiagnosis in Freeman-Burian syndrome

“…[1,6] Ten English-language case reports have been published between 2020-2022 purportedly describing FBS that contained similar, preventable errors. [1,[10][11][12][13][14][15][16][17][18] Not conducting a thorough literature search and omitting recent articles was the common denominator among the articles. [19] In trying to address the shortcomings of each, we have responded to all ten, with four letters already published.…”

Limb Deformity Treatment and Diagnosis in Freeman-Burian syndrome

“…Ten English-language case reports have been published between 2020-2022 purportedly describing FBS that contained similar, preventable errors. [1,[11][12][13][14][15][16][17][18][19] Not conducting a thorough literature search and omitting recent articles was the common denominator among the articles. [20] In trying to address the shortcomings of each, we have responded to nine, with four letters already published.…”