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Freeman-Sheldon syndrome: report of one case.
Acta Paediatr Taiwan. 2005 Sep-Oct; 46(5):314-7.AP

Abstract

Freeman-Sheldon syndrome is a rare disorder, and the diagnosis is clinical by unusual facial features and skeletal abnormalities. It was first described by Freeman and Sheldon in 1938; since then, cases of Freeman-Sheldon syndrome have been reviewed extensively. There is genetic heterogeneity, but most cases are thought to be sporadic. Aspiration pneumonia and respiratory difficulties are the main causes of early mortality. In Taiwan, only a few cases have been reported before. We report here one full-term male newborn with normal prenatal examination that was diagnosed as Freeman-Sheldon syndrome by typical characteristics after birth. The brain magnetic resonance imaging showed normal development. The patient also combined with blepharosynechia, congenital heart disease and abnormal electroencephalography, which are rare in Freeman-Sheldon syndrome. He was treated for mild respiratory difficulties and feeding problem at hospital in the first month of his life and discharged without obvious eventful condition, except still on nasogastric tube feeding. Unfortunately, the patient expired at home at the age of 2 months, but the parents refused autopsy.

Authors+Show Affiliations

Department of Pediatrics, Lotung St. Mary's Hospital, Yilan, Taiwan.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16640009

Citation

Wu, Shu-Chuang, and Mei-Ling Chang. "Freeman-Sheldon Syndrome: Report of One Case." Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, vol. 46, no. 5, 2005, pp. 314-7.
Wu SC, Chang ML. Freeman-Sheldon syndrome: report of one case. Acta Paediatr Taiwan. 2005;46(5):314-7.
Wu, S. C., & Chang, M. L. (2005). Freeman-Sheldon syndrome: report of one case. Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 46(5), 314-7.
Wu SC, Chang ML. Freeman-Sheldon Syndrome: Report of One Case. Acta Paediatr Taiwan. 2005 Sep-Oct;46(5):314-7. PubMed PMID: 16640009.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Freeman-Sheldon syndrome: report of one case. AU - Wu,Shu-Chuang, AU - Chang,Mei-Ling, PY - 2006/4/28/pubmed PY - 2006/5/23/medline PY - 2006/4/28/entrez SP - 314 EP - 7 JF - Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi JO - Acta Paediatr Taiwan VL - 46 IS - 5 N2 - Freeman-Sheldon syndrome is a rare disorder, and the diagnosis is clinical by unusual facial features and skeletal abnormalities. It was first described by Freeman and Sheldon in 1938; since then, cases of Freeman-Sheldon syndrome have been reviewed extensively. There is genetic heterogeneity, but most cases are thought to be sporadic. Aspiration pneumonia and respiratory difficulties are the main causes of early mortality. In Taiwan, only a few cases have been reported before. We report here one full-term male newborn with normal prenatal examination that was diagnosed as Freeman-Sheldon syndrome by typical characteristics after birth. The brain magnetic resonance imaging showed normal development. The patient also combined with blepharosynechia, congenital heart disease and abnormal electroencephalography, which are rare in Freeman-Sheldon syndrome. He was treated for mild respiratory difficulties and feeding problem at hospital in the first month of his life and discharged without obvious eventful condition, except still on nasogastric tube feeding. Unfortunately, the patient expired at home at the age of 2 months, but the parents refused autopsy. SN - 1608-8115 UR - https://www.unboundmedicine.com/medline/citation/16640009/Freeman_Sheldon_syndrome:_report_of_one_case_ L2 - http://www.diseaseinfosearch.org/result/2921 DB - PRIME DP - Unbound Medicine ER -
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