Craniofacial cephalometric morphology in children with CATCH 22 syndrome.
OBJECTIVE
To evaluate cephalometrically the craniofacial, pharyngeal and cervical morphology in children with CATCH 22, and to compare and quantify the findings with age- and sex-matched controls.


METHODS
A retrospective case-control study.


METHODS
Forty-one children (20 girls) with CATCH 22 were compared with age- and sex-matched controls from lateral cephalograms taken at the mean age of 8.5 years (range 5.8-12.9). The deletion of 22q11 was verified by fluorescence in situ hybridization techniques. Thirteen of the children with CATCH 22 had palatal clefts.


METHODS
Linear and angular measurements were obtained from lateral cephalograms. A Student's t-test and a paired Student's t-test were used in the statistical analysis. Standard deviation scores (SDS) were calculated to quantify the variation.


RESULTS
Children with CATCH 22 had obtuse cranial base angles and long anterior cranial bases. Their faces were long with increased facial convexity. The maxillae were long but both jaws were retrognathic and the lower jaws posteriorly diverged. The pharynges were wide in the nasopharyngeal area and narrow in the hypopharyngeal area. The development of the hyoid bones was delayed, and hyoid bone and atlas lengths were reduced. The morphology of the children with CATCH 22 with and without a palatal cleft was similar. Despite several statistically significant differences between the children with CATCH 22 and the controls, the SDS did not exceed +/-2 for any of the measurements.


CONCLUSIONS
Children with CATCH 22 have several minor distinctive morphological features in the craniofacial, pharyngeal, and cervical areas.
Heliövaara
A
A
Department of Plastic Surgery, Cleft Center, Helsinki University Central Hospital, HUS, Finland. arja.heliovaara@mbnet.fi
Hurmerinta
K
K
D000015:Abnormalities, Multiple / Q000473:pathology*; D016022:Case-Control Studies; D002508:Cephalometry; D002574:Cervical Vertebrae / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability; D008297:Male; D010614:Pharynx / Q000002:abnormalities; D012189:Retrospective Studies; D013577:Syndrome