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. 2021 Nov-Dec;32(8):2660-2665.
doi: 10.1097/SCS.0000000000007910.

Facial Dysmorphology in Saethre-Chotzen Syndrome

Alexandra Junn  1 , Jacob Dinis  1 , Xiaona Lu  1   2 , Antonio Jorge Forte  3 , Mohammad Ali Mozaffari  1 , Sarah Phillips  1 , Joseph Lopez  1 , Nivaldo Alonso  4 , John A Persing  1 , Michael Alperovich  1
Affiliations

Facial Dysmorphology in Saethre-Chotzen Syndrome

Alexandra Junn et al. J Craniofac Surg. 2021 Nov-Dec.

Abstract

Purpose: Classic features of Saethre-Chotzen syndrome (SCS) described in the literature include a prominent nasal bridge, eyelid ptosis, telorbitism, maxillary hypoplasia, and mandibular prognathism. The purpose of this study was to evaluate objectively the bony features of SCS.

Methods: Preoperative computer tomography scans of 15 SCS patients, 23 normal controls, 13 bicoronal nonsyndromic, and 7 unicoronal nonsyndromic craniosynostosis patients were included for analysis. Unaffected controls and nonsyndromic patients were age- and sex-matched to SCS patients. Morphometric cephalometrics were analyzed using three-dimensional computer tomography reconstructions. Mann-Whitney U were used to compare facial measurements between SCS and normal and nonsyndromic craniosynostosis controls.

Results: Telorbitism was present in bicoronal SCS patients only (P = 0.04) but absent in the unicoronal and bicoronal/metopic cohorts. The angle of the nasal bone relative to the sella was not different between SCS and controls (P = 0.536), although the angle of the nasal bone relative to the forehead was decreased in SCS by 15.5° (P < 0.001). Saethre-Chotzen syndrome had a 2.6° maxillary retrusion relative to controls (P = 0.03). In addition, SCS patients aged 4 to 7 months had a wider (39.34 versus 35.04, P = 0.017) and anteroposteriorly foreshortened (32.12 versus 35.06, P = 0.039) maxilla. There was no difference in mandibular prognathism among SCS patients as measured by the sella-nasion-B point angle compared to controls (P = 0.705).

Conclusions: Despite classic descriptions, on morphometric analysis SCS patients did not demonstrate consistency across all suture subtypes in terms of telorbitism, a broad nasal bridge, or mandibular prognathism. Rather, SCS subtypes of SCS based on suture pathology more closely resemble nonsyndromic patients.

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Conflict of interest statement

The authors report no conflicts of interest.

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