Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss

Giuseppe Zampino, Guido Conti, Francesca Balducci, Massimo Moschini, Marina Macchiaiolo, Pierpaolo Mastroiacovo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

18 Citazioni (Scopus)


We describe a child with whistling face and multiple contractures, including ulnar deviation of fingers, compatible with a diagnosis of Freeman-Sheldon syndrome (FSS). This patient also presented severe hypertonicity, multiple episodes of pneumonia, difficulty in swallowing, and poor weight gain, which are characteristic of the most severe cases of FSS. A brain CT scan showed cerebellar and brainstem atrophy. Auditory brainstem responses were absent. The child died at 5 months of respiratory failure. This case suggests the possibility that, especially in the most severe forms, brain abnormalities may be responsible for some of the clinical manifestations of this syndrome, i.e., respiratory problems, difficulty in swallowing and severe hypertonicity. We assume that there is more than one pathogenetic mechanism (muscular, skeletal, and neurological) underlying FSS, which, together with the genetic heterogeneity and the wide range of clinical symptoms leads us to suggest that it is more appropriate to speak of a Freeman-Sheldon spectrum rather than syndrome and that thorough investigation for CNS and auditory abnormalities should be part of the initial work-up of these patients.
Lingua originaleEnglish
pagine (da-a)293-296
Numero di pagine4
RivistaAmerican Journal of Medical Genetics
Stato di pubblicazionePubblicato - 1996


  • Adult
  • Arthrogryposis
  • Brain
  • Evoked Potentials, Auditory, Brain Stem
  • Face
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Male
  • Respiratory Tract Diseases
  • Tomography Scanners, X-Ray Computed


Entra nei temi di ricerca di 'Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss'. Insieme formano una fingerprint unica.

Cita questo