Case Report

Diagnosis and Management of Freeman-Burian Syndrome: A Case Report

Abstract

 

Abstract:

Introduction:

Freeman Sheldon syndrome is a rare genetic disease of varying severity with craniocarpotarsal manifestations, which has many difficulties in orthopedic management also anaesthetic concerns about intubation difficulties and malignant hyperthermia and mutch tendency of deformities for recurrence.

Objective:

Describe clinically manifestations of a patient with Freeman-Sheldon syndrome.

Presentation of the case:

An Iranian girl presents mask-like face, deep sunken eyes,ptosis, wide nasal bridge, small mouth with the facial typical appearance of a whistler, dental crowding and high narrow palate, skin dimple on the chin in the shape of an  H-shape and abnormally long philtrum. defect in the hands of typical windmill vane hand and clasped thumb deformity ,Resistant contracture of the fingers with ulnar deviation and bilateral  rigid clubfoot,  and failure to thrive.

Conclusions:

Freeman-Sheldon syndrome is a rare syndrome that mainly affects the face and upper and lower limbs of patients, whose clinical diagnosis is possible after a thorough physical examination. and

it is best to start treatment without delay regarding future prognosis at least with nonoperative modalities.

References
1. Poling MI, Dufresne CR, McCormick RJ. Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment. J Pediatr Genet 2020;9(03):158-63.
2. Fisher K, Qasem F, Armstrong P, McConachie I. Anesthetic considerations in a parturient with Freeman–Sheldon syndrome. Int J Obstet Anesth 2016;27:81-4.
3. Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis 2019;14(1):1-8.
4. Freeman E, Sheldon J. Cranio-carpo-tarsal dystrophy. Arch Dis Child 1938;13(75):277.
5. Burian F. The “whistling face” characteristic in a compound cranio-facio-corporal syndrome. Br J Plast Surg 1963;16:140-3.
6. Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 2006;117(3):754-62.
7. Al-Haggar M, Yahia S, Damjanovich K, Ahmad N, Hamada I, Bayrak-Toydemir P. p. R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. Indian J Pediatr 2011;78(1):103-5.
8. Tajsharghi H, Kimber E, Kroksmark A-K, Jerre R, Tulinius M, Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch Neurol 2008;65(8):1083-90.
9. Gavaskar KAS, Chowdary N. Surgical management of windblown hand: results and literature review. J Child Orthop 2009;3(2):109-14.
Files
IssueVol 10 No 4 (2024) QRcode
SectionCase Report
DOI https://doi.org/10.18502/jost.v10i4.17370
Keywords
Keywords: Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Freeman-Burian syndrome; Freeman-Sheldon syndrome; Whistling face syndrome

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Arabzadeh A, Azaditalab H, Alitaleshi H, Abbaszadeh M. Diagnosis and Management of Freeman-Burian Syndrome: A Case Report. J Orthop Spine Trauma. 2024;10(4):174-6.