To identify skull-base growth patterns in Crouzon syndrome, we hypothesized premature minor suture fusion restricts occipital bone development, secondarily limiting foramen magnum expansion. Skull-base suture closure degree and cephalometric measurements were retrospectively studied using preoperative computed tomography (CT) scans and multiple linear regression analysis. Evaluation of multi-institutional CT images and 3D reconstructions from Wake Forest's Craniofacial Imaging Database (WFCID). Sixty preoperative patients with Crouzon syndrome under 12 years-old were selected from WFCID. The control group included 60 age- and sex-matched patients without craniosynostosis or prior craniofacial surgery. None. 2D and 3D cephalometric measurements. 3D volumetric evaluation of the basioccipital, exo-occipital, and supraoccipital bones revealed decreased growth in Crouzon syndrome, attributed solely to premature minor suture fusion. Spheno-occipital (β = -398.75; < .05) and petrous-occipital (β = -727.5; < .001) suture fusion reduced growth of the basioccipital bone; lambdoid suture (β = -14 723.1; < .001) and occipitomastoid synchondrosis (β = -16 419.3; < .001) fusion reduced growth of the supraoccipital bone; and petrous-occipital suture (β = -673.3; < .001), anterior intraoccipital synchondrosis (β = -368.47; < .05), and posterior intraoccipital synchondrosis (β = -6261.42; < .01) fusion reduced growth of the exo-occipital bone. Foramen magnum morphology is restricted in Crouzon syndrome but not directly caused by early suture fusion. Premature minor suture fusion restricts the volume of developing occipital bones providing a plausible mechanism for observed foramen magnum anomalies.
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http://dx.doi.org/10.1177/10556656211072762 | DOI Listing |
Childs Nerv Syst
December 2024
NJ Craniofacial Center, Morristown, NJ, 07960, USA.
Background: Goldenhar syndrome is a clinically heterogeneous disorder defined by a rare combination of congenital anomalies-an eye abnormality, in addition to two of the following three: ear anomalies, mandibular malformations, and vertebral defects. Notably, children with Goldenhar syndrome present with a high incidence of cervical spine malformations.
Clinical Case: In this report, we present an unusual case of a 15-year-old child with Goldenhar syndrome, who additionally presents with some clinical features of VACTERL syndrome.
Sleep Breath
November 2024
Chantilly - Les Jockeys Hospital, Gouvieux, France.
Crouzon syndrome (CS) is a hereditary disorder characterized by deformities of the face and skull brought on by syndromic craniosynostosis or the premature fusion of coronal sutures. Pediatric patients with Crouzon syndrome have a high likelihood of developing obstructive sleep apnea (OSAS), primarily due to skeletal hypoplasia and facial dysmorphism. Treatment of OSAS in patients with Crouzon syndrome requires multidisciplinary and sequential treatment planning because Crouzon syndrome often has different phenotypes with varying severity in OSA and facial dysmorphism.
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January 2025
Department of Internal Medicine, NAIHS, Kathmandu, Nepal.
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare congenital disorder affecting craniofacial development. It is caused by an autosomal dominant mutation, primarily in the TCOF1 gene, which impacts the development of the first and second branchial arches. We present the case of a 12-year-old male with bilateral conductive hearing loss and deformed ears, whose clinical and imaging findings were consistent with Treacher Collins syndrome.
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November 2024
Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Int J Mol Sci
October 2024
Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder with variable penetrance and high genetic and phenotypic heterogeneity. It is caused by pathogenic variants in the , , and genes, and its major characteristic features are malar and mandibular hypoplasia, downward slanting of the palpebral fissures, and conductive hearing loss. In this study, five patients (two males and three females, age range from 2 to 29 years) with TCS were tested by Next-Generation Sequencing (NGS)-based sequencing and clinically characterized.
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