The Freeman-Sheldon syndrome

The authors report two cases of Freeman-Sheldon syndrome, characterised by recessive autosomic transmission, affecting a brother and a sister born of parents who were not blood relations. The syndrome, for which 50 cases are described in the literature, takes its name from the authors who were the f...

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Bibliographic Details
Published inArchivio "Putti" di chirurgia degli organi di movimento Vol. 38; no. 1; p. 215
Main Authors Guzzanti, V, Toniolo, R M, Lembo, A
Format Journal Article
LanguageItalian
Published Italy 1990
Subjects
Abnormalities, Multiple - diagnosis
Bone and Bones - diagnostic imaging
Craniofacial Dysostosis - diagnosis
Humans
Infant, Newborn
Radiography
Syndrome
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Summary:The authors report two cases of Freeman-Sheldon syndrome, characterised by recessive autosomic transmission, affecting a brother and a sister born of parents who were not blood relations. The syndrome, for which 50 cases are described in the literature, takes its name from the authors who were the first to describe it in 1938. The typical picture is based on congenital deformity involving the cranium, the face and the locomotor apparatus, with a particular aspect of the subject affected related to his or her expression, resembling that of someone whistling ("whistling face", Burian, 1963). In addition to the descriptive aspect of the syndrome and to the means of its transmission, the authors report orthopaedic aspects concerning the locomotor apparatus and problems related to the type of surgery performed.
ISSN:0066-670X