Table 4.

Autosomal Recessive Spondylocostal Dysostosis: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Growth No specific nutritional needs to be considered other than maintaining appropriate weight for heightPersons w/SCDO all have variable short-trunk short stature.
Scoliosis Surgical intervention as needed if scoliosis is significant; severe scoliosis is unusual.External bracing (e.g., using vertical expandable prosthetic titanium rib) 1 may be considered, as well as growing rods & other devices as appropriate.
Respiratory distress/failure
  • Respiratory support, depending on extent of pulmonary compromise (usually only necessary in severe disease)
  • Assessment for complications of respiratory disease, incl pulmonary hypertension & cardiac failure as indicated
Neurologic Standard treatment of neurologic problems assoc w/LFNG-related SCDO according to findings & symptoms
Inguinal hernia
  • Educate parents / care providers of young males of signs/symptoms of inguinal hernia & potential complications.
  • Routine mgmt of inguinal hernia per general surgeon

From: Spondylocostal Dysostosis, Autosomal Recessive

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