Freeman-Sheldon Syndrome: A Case Report
نویسندگان
1 Pediatric Endocrinologist, Department of Pediatric Endocrinology and Metabolic diseases ,Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2 Assistant Professor of Pediatrics, Madani Children’s Hospital. Lorestan University of Medical Sciences and
doi
10.22037/ijcn.v3i3.1467چکیده
ObjectiveThe Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia, in which fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar flexion contractures of the hand and equinovarus/valgus deformities of the feet. Intravenous access may be difficult because of limb deformities and thickened subcutaneous tissues. Limbs may be encased in plaster casts or splints limiting the available sites for venepuncture. The authors report with a review of literature the case of an infant with Freeman-Sheldon syndrome, which his characteristics was mentioned above.
