Facial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns.

التفاصيل البيبلوغرافية
العنوان:	Facial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns.
المؤلفون:	Calandrelli R; Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A. Gemelli, 1, Rome, 00168, Italy. rosalinda.calandrelli@policlinicogemelli.it., Pilato F; Unit of Neurology, Department of Medicine, Neurophysiology, Università Campus Bio-Medico, Via Alvaro del Portillo, Rome, Italy.; Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo, Rome, Italy., Massimi L; Pediatric Neurosurgery, Neurosurgery Department, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A. Gemelli, 1, Rome, 00168, Italy., D'Apolito G; Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A. Gemelli, 1, Rome, 00168, Italy., Colosimo C; Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A. Gemelli, 1, Rome, 00168, Italy.
المصدر:	Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2023 Nov; Vol. 39 (11), pp. 3235-3247. Date of Electronic Publication: 2023 May 17.
نوع المنشور:	Journal Article
اللغة:	English
بيانات الدورية:	Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE
أسماء مطبوعة:	Original Publication: Berlin : Springer International, c1985-
مواضيع طبية MeSH:	Cranial Sutures/surgery , Craniosynostoses/diagnostic imaging , Craniosynostoses*/genetics, Humans ; Infant ; Cranial Fossa, Posterior ; Face ; Receptor, Fibroblast Growth Factor, Type 2/genetics ; Skull ; Skull Base ; Syndrome
مستخلص:	Purpose: To assess the role of FGFR2 mutations and sutural synostotic patterns on facial skeleton dysmorphology in children with syndromic craniosynostosis. Methods: Preoperative high-resolution CT images in 39 infants with syndromic craniosynostosis were evaluated. Patients were divided into infants with and without FGFR2 mutations; each group was split according to synostotic involvement of minor sutures/synchondroses: isolated or combined involvement of middle (MCF) and posterior cranial fossae (PCF). Quantitative analysis of the midface and mandible measures was performed. Each subgroup was compared with a group of age-matched healthy subjects. Results: Twenty-four patients with FGFR2 related syndromes were clustered in 3 subgroups: MCF + PCF (8 patients, 5.4 ± 1.75 months), MCF (8 patients, 3.62 ± 1.68 months), and PCF (8 patients, 2.75 ± 0.46 months). Fifteen no-FGFR2 patients were clustered in 2 subgroups: MCF + PCF (7 patients, 9.42 ± 0.78 months) and PCF (8 patients, 7.37 ± 2.92 months). Both FGFR2 and no-FGFR2 groups with involvement of minor sutures coursing in MCF showed more facial sutural synostoses. Children with minor suture/synchondrosis synostosis of MCF (MCF-PCF and MCF subgroups) showed altered position of glenoid fossa and mandibular inclination ([Formula: see text]), but children in the FGFR2 group had also reduced midfacial depth and maxillary length ([Formula: see text]). Children with minor suture/synchondrosis synostosis of PCF (PCF subgroups) had reduced posterior mandibular height, but those children in the FGFR2 group also showed reduced intergonion distance ([Formula: see text]). Conclusions: In children with syndromic craniosynostosis, both skull base and facial suture synostosis affect facial dysmorphology/hypoplasia. FGFR2 mutations may worsen facial hypoplasia both acting on bone development and causing an earlier premature closure of facial sutures. (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
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فهرسة مساهمة:	Keywords: FGFR2 mutations; Facial hypoplasia; Facial sutures; Skull base sutural pattern; Syndromic craniosynostosis
المشرفين على المادة:	EC 2.7.10.1 (FGFR2 protein, human) EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
تواريخ الأحداث:	Date Created: 20230517 Date Completed: 20231116 Latest Revision: 20231121
رمز التحديث:	20231215
DOI:	10.1007/s00381-023-05962-9
PMID:	37195419
قاعدة البيانات:	MEDLINE

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تدمد:	1433-0350
DOI:	10.1007/s00381-023-05962-9