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Clinics in Plastic Surgery Apr 1991
Topics: Acrocephalosyndactylia; Humans
PubMed: 2065484
DOI: No ID Found -
The Journal of Craniofacial SurgeryClassic features of Saethre-Chotzen syndrome (SCS) described in the literature include a prominent nasal bridge, eyelid ptosis, telorbitism, maxillary hypoplasia, and...
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.
Topics: Acrocephalosyndactylia; Cephalometry; Craniosynostoses; Forehead; Humans; Plastic Surgery Procedures
PubMed: 34727468
DOI: 10.1097/SCS.0000000000007910 -
Teratology Dec 1972
Topics: Acrocephalosyndactylia; Adult; Cephalometry; Child, Preschool; Cleft Palate; Female; Humans; Male; Pedigree; Skull
PubMed: 4643612
DOI: 10.1002/tera.1420060306 -
The Journal of Craniofacial Surgery Jul 2013
Topics: Acrocephalosyndactylia; Female; Humans; Male; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2
PubMed: 23851850
DOI: 10.1097/SCS.0b013e3182902d37 -
Taiwanese Journal of Obstetrics &... Dec 2013
Topics: Acrocephalosyndactylia; Adult; Exophthalmos; Female; Humans; Infant, Newborn; Male; Mutation; Radiography; Receptor, Fibroblast Growth Factor, Type 2; Ultrasonography, Prenatal
PubMed: 24411056
DOI: 10.1016/j.tjog.2013.10.031 -
Dermatology Online Journal Mar 2005
Topics: Acrocephalosyndactylia; Child; Humans; Hyperhidrosis; Male
PubMed: 15748556
DOI: No ID Found -
Journal of Pediatric Ophthalmology and... 2022The authors present a case of absent multiple extraocular muscle insertions in Pfeiffer syndrome. An 8-year-old girl with Pfeiffer syndrome presented with V-pattern...
The authors present a case of absent multiple extraocular muscle insertions in Pfeiffer syndrome. An 8-year-old girl with Pfeiffer syndrome presented with V-pattern exotropia and left hypertropia. The absence of bilateral superior oblique, bilateral superior rectus, and left inferior rectus muscle insertions was found intraoperatively. .
Topics: Acrocephalosyndactylia; Child; Exotropia; Female; Humans; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Strabismus
PubMed: 35343824
DOI: 10.3928/01913913-20211206-01 -
Postgraduate Medicine Mar 1969
Topics: Acrocephalosyndactylia; Adolescent; Female; Humans; Radiography
PubMed: 5783979
DOI: 10.1080/00325481.1969.11697059 -
Plastic and Reconstructive Surgery Jan 2019In FGFR2 craniosynostosis, midfacial hypoplasia features oculo-orbital disproportion and symptomatic exorbitism. Clinical consequences may mandate surgery at a young age...
BACKGROUND
In FGFR2 craniosynostosis, midfacial hypoplasia features oculo-orbital disproportion and symptomatic exorbitism. Clinical consequences may mandate surgery at a young age to prevent globe subluxation, corneal ulceration, and potential loss of vision. Monobloc osteotomy and distraction osteogenesis (monobloc distraction) seek to correct exorbitism. A report of the age-related impact of monobloc osteotomy and distraction osteogenesis on orbital volume, globe volume, and globe protrusion is presented.
METHODS
Computed tomographic scan data from 28 Crouzon-Pfeiffer patients were assessed at preoperative, early postoperative, and 1-year follow-up time points. Orbital volumes, globe volumes, and globe protrusions were measured by manual and semiautomatic segmentation techniques, and these were compared to 40 age-matched controls.
RESULTS
Crouzon-Pfeiffer syndrome orbital volumes are significantly small, and are significantly overexpanded by distraction to endpoints correcting symptomatic exorbitism. Globe volumes are significantly larger than controls under 5 years, do not independently correlate with globe protrusion, and are unaffected by surgery. Correlation between orbital volume expansion and reduction of globe protrusion is not significant. Age-related variations of postoperative growth potential occur to 1 year postoperatively. The Crouzon-Pfeiffer syndrome FGFR2 orbit exhibits early growth acceleration followed by premature growth arrest at 10 to 14 years.
CONCLUSIONS
Orbital volume expansion by monobloc osteotomy and distraction osteogenesis is not the sole determinant of reduced globe protrusion. Mean volume relapse of the orbit at 1 year is insignificant across the series. Derived Crouzon-Pfeiffer growth curves suggest that "early functional monobloc" in infants occurs on a background of dynamic orbital growth, which remains programmed to a Crouzon-Pfeiffer FGFR2 phenotype and aligns with the incidence of delayed clinical regression and later secondary surgery.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, IV.
Topics: Acrocephalosyndactylia; Adolescent; Age Factors; Case-Control Studies; Cephalometry; Child; Child, Preschool; Craniofacial Dysostosis; Female; Follow-Up Studies; Humans; Infant; Male; Orbit; Osteogenesis, Distraction; Osteotomy; Retrospective Studies; Risk Assessment; Statistics, Nonparametric; Treatment Outcome
PubMed: 30589795
DOI: 10.1097/PRS.0000000000005105 -
Archivio Stomatologico 1987
Topics: Acrocephalosyndactylia; Humans; Malocclusion; Syndrome; Tooth Abnormalities
PubMed: 3483558
DOI: No ID Found