We describe the case of a male newborn presenting with a prenatal diagnosis of persistent hyperextension of the fetal neck and severe hypotonia and respiratory insufficiency at birth. Facial weakness, increased serum creatine kinase levels, and abnormal feeding, together with other signs, such as severe contractures, also classically associated with congenital myopathies prompted to perform a muscle biopsy showing internal rods suggestive of a possible nemaline myopathy. These findings suggest that a careful neurological examination should be performed in infants with persistent hyperextension of the fetal neck to exclude weakness and a possible underlying muscle disorder.
Lingua originaleEnglish
pagine (da-a)1549-1553
Numero di pagine5
RivistaNeurological Sciences
Stato di pubblicazionePubblicato - 2021


  • Nemaline myopathy
  • Neonatal hypotonia
  • Persistent hyperextension of the fetal neck


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