An Investigation of the Relationship Between the Second-to-Fourth Digit Ratio and Sagittal Synostosis.

Background: The most common presentation of nonsyndromic craniosynostosis is that of the sagittal suture. Amongst this subgroup there is a significant male preponderance. Although the etiology is largely unknown, androgen exposure in utero has been suggested as a contributing factor.

Craniosynostosis With Preoperative Iron Supplementation Exposure: A Retrospective Cohort Study Examining Preoperative Iron Supplementation and Transfusion Practice in a National Paediatric Craniofacial Centre.

Background: Blood loss and subsequent transfusion are key concerns in the surgical management of craniosynostosis, and have been associated with increased morbidity, requirement for intensive care admission and increased length of hospital stay. Patient blood management guidelines advocate treatment of anemia before elective surgical procedures where significant blood loss is anticipated. At present there is little evidence in the literature investigating the clinical value of this practice in pediatric craniofacial surgery.

FACE-Q Craniofacial Module: Part 1 validation of CLEFT-Q scales for use in children and young adults with facial conditions.

Background: The CLEFT-Q includes 12 independently functioning scales that measure appearance (face, nose, nostrils, teeth, lips, jaws), health-related quality of life (psychological, social, school, speech distress), and speech function, and an eating/drinking checklist. Previous qualitative research revealed that the CLEFT-Q has content validity in noncleft craniofacial conditions. This study aimed to examine the psychometric performance of the CLEFT-Q in an international sample of patients with a broad range of facial conditions.

Psychometric Validation of the FACE-Q Craniofacial Module for Facial Nerve Paralysis.

Systematic reviews have identified the need for a patient-reported outcome measure for facial nerve paralysis (FNP). The aim of this study was to determine the psychometric properties of FACE-Q Craniofacial module scales when used in a combined sample of children and older adults with FNP. Data were collected between December 2016 and December 2019.

"The historical timeline of cranioplasty".

Cranioplasty, defined as the reconstruction of cranial defects, not only offers protective effects with an aesthetically pleasing outcome, but also reverses the altered physiology post craniotomy and craniectomy. The journey of cranioplasty from its roots to the neoteric armamentarium depicts how enormously the innovation of surgical techniques have changed the face of plastic surgery.

Accelerating bone healing in vivo by harnessing the age-altered activation of c-Jun N-terminal kinase 3.

We have recently demonstrated that c-Jun N-terminal kinase 3 (JNK3) is a key modulator of the enhanced osteogenic potential of stem cells derived from children when compared to those derived from adults. In this study, we formulated a JNK3-activator nanoparticle (JNK3*) that recapitulates the immense osteogenic potential of juvenile cells in adult stem cells by facilitating JNK3 activation. Moreover, we aimed to functionalize a collagen-based scaffold by incorporating the JNK3* in order to develop an advanced platform capable of accelerating bone healing by recruitment of host stem cells.

X-rays had little value in diagnosing children's abnormal skull shapes, and primary care clinicians should refer concerns to specialist teams.

Aim: This study examined the consensus between the primary care radiological diagnosis and specialist clinical diagnosis of abnormal skull shapes in children.

Methods: We performed a retrospective review of children treated at the National Paediatric Craniofacial Centre at Children's Health Ireland, Dublin, Ireland. Group 1 were referred by primary care colleagues concerned about suspected abnormal skull shapes from 1 January 2015 to 30 May 2017.

Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.

We report clinical and radiological features of a patient born with an isolated skull malformation of caput membranaceum and partial bicoronal craniosynostosis with a novel, de novo heterozygous missense variant in ZIC1 [NM_003412.3:c.1183C>G, p.

Identification of stiffness-induced signalling mechanisms in cells from patent and fused sutures associated with craniosynostosis.

Craniosynostosis is a bone developmental disease where premature ossification of the cranial sutures occurs leading to fused sutures. While biomechanical forces have been implicated in craniosynostosis, evidence of the effect of microenvironmental stiffness changes in the osteogenic commitment of cells from the sutures is lacking. Our aim was to identify the differential genetic expression and osteogenic capability between cells from patent and fused sutures of children with craniosynostosis and whether these differences are driven by changes in the stiffness of the microenvironment.

Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.

We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.

Identification of the mechanisms by which age alters the mechanosensitivity of mesenchymal stromal cells on substrates of differing stiffness: Implications for osteogenesis and angiogenesis.

Unlabelled: In order to identify the mechanisms by which skeletal maturity alters the mechanosensitivity of mesenchymal stromal cells (MSCs) and, the implications for osteogenesis and angiogenesis during bone formation, we compared the response of MSCs derived from children and skeletally-mature healthy adults cultured on soft and stiff collagen-coated polyacrylamide substrates. MSCs from children were more mechanosensitive, showing enhanced angiogenesis and osteogenesis on stiff substrates as indicated by increased endothelial tubule formation, PGF production, nuclear-translocation of YAP, ALP activity and mineralisation. To examine these mechanisms in more detail, a customised PCR array identified an age-dependent, stiffness-induced upregulation of NOX1, VEGFR1, VEGFR2, WIF1 and, of particular interest, JNK3 in cells from children compared to adults.

Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

We report the case of a developmentally appropriate infant male with a de novo unbalanced chromosome translocation involving bands 2q32.1 and 7p21.3.