Ossification centre of the hyoid bone in DiGeorge syndrome and tetralogy of Fallot
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Radiographic visibility of the hyoid ossification centre (HOC) in neonates is significantly reduced in DiGeorge syndrome (DGS) and certain congenital heart diseases (CHD). This finding aids in diagnosing DGS and assessing prognosis for infants with CHD.
Area of Science:
- Medical Imaging
- Pediatric Cardiology
- Genetics
Background:
- The hyoid ossification centre (HOC) is a developmental marker.
- DiGeorge syndrome (DGS) and congenital heart disease (CHD) are significant pediatric conditions.
- Early diagnosis and prognostic assessment in neonates are crucial.
Purpose of the Study:
- To investigate the incidence of radiographic HOC visibility in neonates.
- To determine if HOC visibility differs in infants with DGS and specific CHDs.
- To assess the diagnostic and prognostic utility of HOC visibility.
Main Methods:
- Analysis of radiographs from 34 autopsied infants (16 with DGS, 14 with Tetralogy of Fallot (TOF), 4 with Interrupted Aortic Arch (IAA)).
- Comparison with a control group of infants without DGS or CHD.
- Inclusion of surviving infants with non-DGS TOF or non-DGS IAA.
Main Results:
- Normal HOC visibility incidence was 75.7% in controls.
- Significantly lower HOC visibility incidence was observed in autopsied infants with DGS, TOF without DGS, and IAA without DGS.
- Infants with non-DGS TOF or IAA surviving infancy showed normal HOC visibility.
Conclusions:
- Reduced radiographic HOC visibility in the first postnatal month is associated with DGS and certain CHDs.
- HOC visibility is a potentially useful radiological marker for diagnosing DGS and associated CHDs.
- HOC visibility may aid in assessing the prognosis of neonates with specific CHDs.
Abstract:
The incidence of radiographic visibility of the ossification centre of the body of the hyoid bone in radiographs taken during the first month of life was analysed for 34 autopsied infants: 16 with DiGeorge syndrome (DGS), 14 with tetralogy of Fallot (TOF), four with interrupted aortic arch (IAA) and a further 13, surviving infants with non-DGS TOF or non-DGS IAA. The incidence of visible hyoid ossification centre (HOC) was 75.7% in a control series of infants with neither congenital heart disease (CHD) nor DGS. Autopsied patients with DGS, TOF without DGS, and IAA without DGS showed a significantly low incidence of visible HOC. Infants with TOF (and possibly those with IAA) who did not have DGS and who did not die during infancy showed a normal incidence of visible HOC in radiographs taken during the first post-natal month. Radiological visibility of the HOC in the first post-natal month appears useful in the diagnosis of DGS and forms of CHD often seen in association with DGS and in assessing prognosis of neonates with certain types of CHD.