Freeman-Sheldon syndrome: report of one case.
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.
Wu
Shu-Chuang
SC
Department of Pediatrics, Lotung St. Mary's Hospital, Yilan, Taiwan.
Chang
Mei-Ling
ML
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001842:Bone and Bones / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008046:Lip / Q000002:abnormalities; D008297:Male; D011296:Prenatal Diagnosis; D013577:Syndrome