Freeman-Sheldon syndrome. A case report and review of the literature.
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.
Ferrari
Daniele
D
Divisione di Ortopedia e Traumatologia Pediatrica, Istituto Ortopedico Rizzoli, Via Pupilli, 1, 40136, Bologna, Italy. daniele.ferrari@ior.it
Bettuzzi
Camilla
C
Donzelli
Onofrio
O
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000601:surgery; D001176:Arthrogryposis / Q000235:genetics; D001915:Braces; D001996:Bronchopneumonia / Q000209:etiology; D002675:Child, Preschool; D003025:Clubfoot / Q000235:genetics* / Q000601:surgery; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006618:Hip Dislocation, Congenital / Q000235:genetics / Q000601:surgery; D006801:Humans; D007738:Kyphosis / Q000151:congenital / Q000235:genetics / Q000601:surgery / Q000628:therapy; D008865:Microstomia / Q000235:genetics / Q000601:surgery; D009133:Muscular Atrophy / Q000235:genetics; D012086:Reoperation; D012131:Respiratory Insufficiency / Q000209:etiology; D012600:Scoliosis / Q000151:congenital / Q000235:genetics / Q000601:surgery / Q000628:therapy; D013577:Syndrome; D014140:Tracheotomy