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Freeman Sheldon syndrome with marked kyphoscoliosis at birth: a case report.
Mymensingh Med J 2013; 22(1):206-9MM

Abstract

Freeman sheldon syndrome or Whistling face syndrome is a disorder involving face and the musculoskeletal system. There are three basic abnormalities like microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers and talipes equinovarus. Other associated less specific abnormalities are short broad neck, kyphoscoliosis. Most of the features are due to increased muscle tone. Here we are presenting a newborn with multiple congenital anomaly like microstomia with pouting lips, H like dimple of the chin, hypoplastic alae nasi, plug like nostrils, short and broad neck. Bilateral talipes equinovarus, gibbus, contracture of both upper and lower limbs with ulnar deviation of the fingers of the hand was noted. On radiological evaluation kyphoscoliosis and oar blade shaped ribs arranged in centrifugal fashion was found. The patient was diagnosed as a case of Freeman Sheldon syndrome (whistling face syndrome) on the basis of minimal diagnostic criteria, unique clinical and radiological features. She received both medical and orthopaedic management and improved.

Authors+Show Affiliations

Department of Paediatrics, Sir Salimullah Medical College, Dhaka, Bangladesh.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23416834

Citation

Naher, B S., et al. "Freeman Sheldon Syndrome With Marked Kyphoscoliosis at Birth: a Case Report." Mymensingh Medical Journal : MMJ, vol. 22, no. 1, 2013, pp. 206-9.
Naher BS, Hossain A, Islam ST, et al. Freeman Sheldon syndrome with marked kyphoscoliosis at birth: a case report. Mymensingh Med J. 2013;22(1):206-9.
Naher, B. S., Hossain, A., Islam, S. T., & Ali, M. A. (2013). Freeman Sheldon syndrome with marked kyphoscoliosis at birth: a case report. Mymensingh Medical Journal : MMJ, 22(1), pp. 206-9.
Naher BS, et al. Freeman Sheldon Syndrome With Marked Kyphoscoliosis at Birth: a Case Report. Mymensingh Med J. 2013;22(1):206-9. PubMed PMID: 23416834.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Freeman Sheldon syndrome with marked kyphoscoliosis at birth: a case report. AU - Naher,B S, AU - Hossain,A, AU - Islam,S T, AU - Ali,M A, PY - 2013/2/19/entrez PY - 2013/2/19/pubmed PY - 2013/6/26/medline SP - 206 EP - 9 JF - Mymensingh medical journal : MMJ JO - Mymensingh Med J VL - 22 IS - 1 N2 - Freeman sheldon syndrome or Whistling face syndrome is a disorder involving face and the musculoskeletal system. There are three basic abnormalities like microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers and talipes equinovarus. Other associated less specific abnormalities are short broad neck, kyphoscoliosis. Most of the features are due to increased muscle tone. Here we are presenting a newborn with multiple congenital anomaly like microstomia with pouting lips, H like dimple of the chin, hypoplastic alae nasi, plug like nostrils, short and broad neck. Bilateral talipes equinovarus, gibbus, contracture of both upper and lower limbs with ulnar deviation of the fingers of the hand was noted. On radiological evaluation kyphoscoliosis and oar blade shaped ribs arranged in centrifugal fashion was found. The patient was diagnosed as a case of Freeman Sheldon syndrome (whistling face syndrome) on the basis of minimal diagnostic criteria, unique clinical and radiological features. She received both medical and orthopaedic management and improved. SN - 1022-4742 UR - https://www.unboundmedicine.com/medline/citation/23416834/Freeman_Sheldon_syndrome_with_marked_kyphoscoliosis_at_birth:_a_case_report_ L2 - http://www.diseaseinfosearch.org/result/2921 DB - PRIME DP - Unbound Medicine ER -