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Chir Organi Mov. 2008 Sep;92(2):127-31. doi: 10.1007/s12306-008-0053-4. Epub 2008 Aug 1.

Freeman-Sheldon syndrome. A case report and review of the literature.

Author information

1
Divisione di Ortopedia e Traumatologia Pediatrica, Istituto Ortopedico Rizzoli, Via Pupilli, 1, 40136, Bologna, Italy. daniele.ferrari@ior.it

Abstract

The Authors describe a case of Freeman-Sheldon Syndrome, a rare congenital autosomal dominant disorder (gene mapped on chromosome 11p15.5) characterized by microstomia with crinkled lips, camptodactyly with ulnar deviation of the fingers and equinus-varus-supine clubfoot. The autosomal recessive form, even rarer and difficult to recognize, has a more severe clinical manifestation. The symptomatology is worsened by breathing and swallowing disorders due to the small orifices of the mouth and nose, which sometimes require tracheotomy to avoid obstruction of the airways.

PMID:
18677448
DOI:
10.1007/s12306-008-0053-4
[Indexed for MEDLINE]

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