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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Craniofacial cephalometric morphology in children with CATCH 22 syndrome
1Department of Plastic Surgery, Cleft Center, Helsinki University Central Hospital, HUS, Finland. arja.heliovaara@mbnet.fi
Orthodontics & Craniofacial Research
|November 15, 2006
Summary
Children with CATCH 22 (22q11 deletion syndrome) exhibit distinct craniofacial, pharyngeal, and cervical morphology compared to controls. These subtle differences, including jaw positioning and bone development, are present even in those without palatal clefts.
Area of Science:
- Craniofacial Morphology
- Pediatric Genetics
- Medical Imaging
Background:
- 22q11 deletion syndrome, also known as CATCH 22, is a genetic disorder with variable clinical manifestations.
- Craniofacial, pharyngeal, and cervical abnormalities are frequently observed in affected individuals, but detailed cephalometric analysis is limited.
Purpose of the Study:
- To perform a comprehensive cephalometric evaluation of craniofacial, pharyngeal, and cervical morphology in children with CATCH 22.
- To quantitatively compare these findings with age- and sex-matched healthy controls.
Main Methods:
- A retrospective case-control study involving 41 children with CATCH 22 and matched controls.
- Lateral cephalograms were analyzed for linear and angular measurements.
- Statistical analysis included Student's t-tests and calculation of standard deviation scores (SDS).
Main Results:
- Children with CATCH 22 demonstrated obtuse cranial base angles, long anterior cranial bases, and increased facial convexity.
- Maxillae were long, with retrognathic and posteriorly diverging mandibles.
- Pharyngeal width varied, hyoid bone development was delayed, and hyoid and atlas lengths were reduced.
- Morphological differences were consistent between CATCH 22 patients with and without palatal clefts, and SDS values generally remained within +/-2.
Conclusions:
- Children with CATCH 22 exhibit several minor, yet distinctive, morphological variations in their craniofacial, pharyngeal, and cervical structures.
- These findings contribute to a better understanding of the skeletal phenotype associated with 22q11 deletion syndrome.
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