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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)293-296
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number3
Publication statusPublished - Mar 29 1996


  • brain defect
  • cranio-carpo-tarsal dysplasia
  • Freeman-Sheldon syndrome
  • hearing loss
  • whistling face syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology


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