7,931 results match your criteria Craniosynostosis

Deletion of and causes abnormal skull morphology and global developmental delay.

Cold Spring Harb Mol Case Stud 2021 Jun 11;7(3). Epub 2021 Jun 11.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.

The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Read More

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A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

Bone Res 2020 Jun 11;8(1):24. Epub 2020 Jun 11.

Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.

The GP130 cytokine receptor subunit encoded by IL6ST is the shared receptor for ten cytokines of the IL-6 family. We describe a homozygous non-synonymous variant in IL6ST (p.R281Q) in a patient with craniosynostosis and retained deciduous teeth. Read More

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Evaluation of the OSA treatment protocol in syndromic craniosynostosis during the first 6 years of life.

J Plast Reconstr Aesthet Surg 2021 Mar 28. Epub 2021 Mar 28.

Department of Plastic Surgery, Sophia Children's Hospital - Erasmus Medical Center, Rotterdam, Netherlands.

Introduction: Obstructive sleep apnea (OSA) is frequently present in patients with syndromic craniosynostosis. The aim of this study is to determine the long-term effectiveness of our OSA treatment protocol in our tertiary center in a cohort of children with syndromic craniosynostosis.

Methods: Children with syndromic craniosynostosis born between January 2005 and December 2013 were eligible for inclusion (n = 114). Read More

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X-linked hypophosphatemia and burosumab: practical clinical points from the French experience.

Joint Bone Spine 2021 Jun 5:105208. Epub 2021 Jun 5.

APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France; APHP, Endocrinology and Diabetes for Children, Bicêtre Paris-Sud Hospital, Le Kremlin-Bicêtre, France. Electronic address:

Hereditary hypophosphatemia with increased FGF23 levels are rare inherited metabolic diseases characterized by low serum phosphate because of impaired renal tubular phosphate reabsorption. The most common form is X-linked hypophosphatemia (XLH), secondary to a mutation in the PHEX gene. In children, XLH is often manifested by rickets, delayed development of gait, lower limb deformities, growth retardation, craniosynostosis, and spontaneous dental abscesses. Read More

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Objective Analysis of Fronto-Orbital Dysmorphology in Unilateral Coronal Craniosynostosis.

J Craniofac Surg 2021 Jun 7. Epub 2021 Jun 7.

Department of Plastic Surgery, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh Drexel University College of Medicine, Philadelphia, PA.

Abstract: Correction (and over-correction) of asymmetries of the orbital shape and brow position in unilateral coronal craniosynostosis (UCS) is critical to successful fronto-orbital advancement. Here we quantify and three-dimensionally assess fronto-orbital irregularities in UCS patients compared to controls.Twenty-three patients with UCS evaluated at the Children's Hospital of Pittsburgh between 2006 and 2016 were age and gender-matched to controls. Read More

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Comprehensive management of Crouzon syndrome: A case report with three-year follow-up.

J Orthod 2021 Jun 8:14653125211019412. Epub 2021 Jun 8.

Department of Orthodontics and Dentofacial Orthopedics, Maulana Azad Institute of Dental Sciences, New Delhi, India.

Crouzon syndrome is one of the most common craniosynostosis facial syndromes caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Less commonly, there is a mutation of the FGFR3 gene which results in Crouzon syndrome syndrome with acanthosis nigricans. It involves the premature fusion of sutures of the cranial vault, base, orbital and maxillary region. Read More

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Biallelic variants in RNU12 cause CDAGS syndrome.

Hum Mutat 2021 Jun 3. Epub 2021 Jun 3.

McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

CDAGS Syndrome is a rare congenital disorder characterized by Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations. We performed whole exome and Sanger sequencing to identify the underlying molecular cause in five patients with CDAGS syndrome from four distinct families. Whole exome sequencing revealed biallelic rare variants that disrupt highly conserved nucleotides within the RNU12 gene. Read More

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Trigonocephaly and Cranium Bifidum Occultum Treated Simultaneously Using the Split-Bone Technique and Piezosurgery.

Cureus 2021 May 31;13(5):e15346. Epub 2021 May 31.

Pediatric Neurosurgery, Vila da Serra Hospital, Nova Lima, BRA.

Cranium bifidum occultum (CBO) is a rare congenital disease characterized by the anomalous ossification of parietal bones, which presents with a midline bone defect with no extrusion of intracranial content. Its association with craniosynostosis has been reported only a few times to date. The aim of this case report was to describe, for the first time, the association between presumed non-syndromic trigonocephaly and CBO, as well as the treatment of both conditions using the same surgical approach. Read More

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External cranial expansion as treatment of intracranial hypertension. Technical note.

Neurosurg Rev 2021 Jun 1. Epub 2021 Jun 1.

Department of Neurological Surgery, Regional University Hospital, Malaga, Spain.

Intracranial hypertension may be idiopathic or due to multiple etiologies. Some bone dysplasias and chronic shunt overdrainage syndrome may sometimes lead to intracranial hypertension associated with craniocerebral disproportion due to thickening of cranial diploe. The internal cranial expansion procedure has been used for patients with intracranial hypertension, whether or not associated with craniocerebral disproportion. Read More

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Unicoronal Craniosynostosis: Is There a Lateral Difference in Retinal Morphology?

J Craniofac Surg 2021 May 28. Epub 2021 May 28.

Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia Department of Ophthalmology, University of Pennsylvania Neuro-ophthalmology Service, Children's Hospital of Philadelphia, Philadelphia, PA.

Background: Craniosynostosis is the premature fusion of cranial sutures in pediatric patients, which may lead to elevated intracranial pressure due to cerebro-cephalic disproportion between a growing brain and constricted skull. It is unknown whether this increased pressure is distributed equally throughout the cranial vault, or whether certain areas of the brain experience greater pressure at these regions of premature osseous fusion.

Methods: Optical coherence tomography (OCT) is a noninvasive modality for detecting elevated intracranial pressure. Read More

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A Cohort Study of Strabismus Rates Following Correction of the Unicoronal Craniosynostosis Deformity: Conventional Bilateral Fronto-Orbital Advancement Versus Fronto-Orbital Distraction Osteogenesis.

J Craniofac Surg 2021 May 28. Epub 2021 May 28.

Division of Plastic Surgery, The University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, PA.

Background: The purpose of this prospective study is to compare perioperative morbidity and strabismus rates between traditional fronto-orbital advancement reconstruction (FOAR) and fronto-orbital distraction osteogenesis (FODO) in unicoronal craniosynostosis (UCS).

Method: A consecutive group of 15 patients undergoing FODO for isolated UCS were compared to a contemporaneous group of 15 patients undergoing traditional FOAR for UCS. Patient age, operative time, blood loss, blood replacement, technical details of the surgery, length of stay, complications, and strabismus rates were documented and compared statistically using chi-square and Student t test with a significance value of 0. Read More

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Posterior Cranial Vault Manifestations in Nonsyndromic Sagittal Craniosynostosis.

J Craniofac Surg 2021 May 28. Epub 2021 May 28.

Cleft and Craniofacial South Australia, Women's and Children's Hospital, North Adelaide, South Australia, Australia Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Abstract: Sagittal synostosis is the most common type of craniosynostosis. Sagittal suture fusion causes restriction of biparietal cranial vault growth, with expansion of the growing brain causing frontal bossing, an occipital bullet, and an elongated head shape. Due to the absence of studies focusing on the posterior cranial vault pattern in isolated sagittal craniosynostosis, we organized this study to characterize the posterior part of the cranial vault and its association with sagittal craniosynostosis. Read More

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Monitoring response to conventional treatment in children with XLH: Value of ALP and Rickets Severity Score (RSS) in a real world setting.

Bone 2021 May 28;151:116025. Epub 2021 May 28.

Royal Manchester Children's Hospital, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Introduction: X-linked hypophosphataemia (XLH) is conventionally managed with oral phosphate and active vitamin D analogues.

Objectives: To evaluate long term treatment response by assessing biochemical disease activity [serum alkaline phosphatase (ALP)], radiological rickets severity score (RSS), growth and morbidity in patients with XLH on conventional therapy and assess the correlation between serum ALP and RSS.

Methods: XLH patients from 3 UK tertiary centres with ≥3 radiographs one year apart were included. Read More

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Treating Syndromic Craniosynostosis with Monobloc Facial Bipartition and Internal Distractor Devices: Destigmatizing the Syndromic Face.

Clin Plast Surg 2021 Jul 11;48(3):521-529. Epub 2021 May 11.

Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Av Adolpho Lutz, 100, Caixa Postal: 6028, Campinas, São Paulo 13084-880, Brazil.

Monobloc and facial bipartition combined with distraction osteogenesis (MFBDO) has gained popularity over the past several years as a treatment of syndromic craniosynostosis, in part because this surgical technique effectively removes many stigmatic clinical features associated with the syndromic face. The objective of this study is to detail the surgical planning used to achieve medialization of the orbits and describe the authors' experience using MFBDO to destigmatize the syndromic face. By using MFBDO, hypertelorism, vertical orbital dystopia, and downslanting of the palpebral fissure were surgically corrected in all patients, thereby destigmatizing the syndromic face. Read More

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Monobloc Distraction and Facial Bipartition Distraction with External Devices.

Clin Plast Surg 2021 Jul;48(3):507-519

Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 7JH, UK.

Monobloc and bipartition advancement by external distraction plays a major role in the treatment of syndromic craniosynostosis. They can reverse the associated facial deformity and play a role in the management of ocular exposure, intracranial hypertension, and upper airway obstruction. Facial bipartition distraction corrects the intrinsic facial deformities of Apert syndrome. Read More

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Craniosynostosis: Monobloc Distraction with Internal Device and Its Variant for Infants with Severe Syndromic Craniosynostosis.

Clin Plast Surg 2021 Jul 8;48(3):497-506. Epub 2021 May 8.

Unité fonctionnelle de chirurgie craniofaciale, Service de Neurochirurgie Pédiatrique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence Maladies Rares CRANIOST, Filière Maladies Rares TeteCou, Université Paris Descartes, ERN Cranio, 149 rue de Sèvres, 75015, Paris, France; Clinique Marcel Sembat, Ramsay Générale de Santé, 105 boulevard Victor Hugo, 92100 Boulogne, France. Electronic address:

The introduction of distraction osteogenesis to frontofacial monobloc advancement has increased the safety of the procedure. One hundred forty-seven patients with syndromic craniosynostosis underwent frontofacial monobloc advancement using 4 internal distractors. Twenty-five were aged 18 months or less. Read More

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Le Fort II Distraction with Simultaneous Zygomatic Repositioning.

Clin Plast Surg 2021 Jul 8;48(3):487-496. Epub 2021 May 8.

The Craniofacial Center, Seattle Children's Hospital, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA.

Severe midface hypoplasia is often managed by Le Fort III distraction. Le Fort II distraction with zygomatic repositioning is a modification of the Le Fort III distraction operation aimed to correct abnormal facial ratios of patients with greater central than lateral midface deficiency. The operation starts with Le Fort III osteotomies and is followed by separation and fixation of bilateral zygomas. Read More

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Craniosynostosis: Le Fort III Distraction Osteogenesis.

Clin Plast Surg 2021 Jul 8;48(3):473-485. Epub 2021 May 8.

Hansjörg Wyss Department of Plastic Surgery, NYU Langone Health, 222 East 41st Street, 22nd floor, New York, NY, 10017, USA.

The Le Fort III advancement was first described in 1950 and has since become a key technique in the armamentarium of craniofacial surgeons. The application of distraction osteogenesis to the craniofacial skeleton has allowed for large movements to be performed safely in young patients. This technique is valuable for correcting exorbitism, airway obstruction owing to midface retrusion, and class III malocclusion. Read More

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Craniosynostosis: Posterior Cranial Vault Remodeling.

Clin Plast Surg 2021 Jul 11;48(3):455-471. Epub 2021 May 11.

Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:

Posterior cranial vault distraction osteogenesis is a powerful, reliable, low-morbidity method to achieve intracranial expansion. It is particularly useful in treating turribrachycephaly seen in syndromic craniosynostosis, allowing for gradual expansion of the bone while stretching the soft tissues over several weeks allowing greater volumetric expansion than conventional techniques. Posterior cranial vault distraction osteogenesis constitutes a more gradual remodeling modality, with infrequent complications. Read More

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Evaluating Surgical Decision-making in Nonsyndromic Sagittal Craniosynostosis Using a Digital 3D Model.

Plast Reconstr Surg Glob Open 2021 May 21;9(5):e3493. Epub 2021 May 21.

Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, Mass.

Surgical correction of craniosynostosis addresses potentially elevated intracranial pressure and the cranial deformity. In nonsyndromic sagittal synostosis, approximately 15% of patients have elevated intracranial pressure. The decision to operate therefore likely reflects a combination of aesthetic goals, prevention of brain growth restriction over time, surgeon training and experience, and parental expectations. Read More

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Posterior vault distraction technique: how I do it.

Childs Nerv Syst 2021 May 25. Epub 2021 May 25.

Medical Research Center, Oulu University Hospital, Oulu, Finland.

Posterior cranial vault distraction is an effective technique when a significant increase in the intracranial volume is required in patients with craniosynostoses. This technique has been proven to be safe and time saving and usually is associated with low perioperative morbidity as well as low intraoperative bleeding. Herein a technique is presented starting from the preoperative planning, describing the surgical steps of the operation and the postoperative distraction protocol used by the authors. Read More

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Craniosynostosis Develops in Half of Infants Treated for Hydrocephalus with a Ventriculoperitoneal Shunt.

Plast Reconstr Surg 2021 Jun;147(6):1390-1399

From the Divisions of Plastic and Reconstructive Surgery and Neurosurgery, the Joseph E. Roberts, Jr., Center for Surgical Care, and the Department of Radiology, Children's National Hospital.

Background: Craniosynostosis following placement of a ventriculoperitoneal shunt for hydrocephalus has been sporadically described. The purpose of this investigation was to determine the general risk of developing craniosynostosis in this patient population.

Methods: The authors retrospectively reviewed records and radiographs of infants who underwent ventriculoperitoneal shunt placement for hydrocephalus from 2006 to 2012. Read More

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The mechanical and microstructural properties of the pediatric skull.

J Mech Behav Biomed Mater 2021 Aug 12;120:104578. Epub 2021 May 12.

Department of Mechanical and Aerospace Engineering, University of Virginia, USA. Electronic address:

The pediatric skull differs drastically from the adult skull in terms of composition, rigidity, and structure. However, there is limited data which quantifies the mechanical properties of the pediatric skull. The lack of mechanical data may inhibit desired pediatric craniofacial surgical outcomes as current methodologies and materials employed for the pediatric population are adapted from those used for adults. Read More

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Postoperative helmet therapy following fronto-orbital advancement and cranial vault remodeling in patients with unilateral coronal synostosis.

Am J Med Genet A 2021 May 19. Epub 2021 May 19.

Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, California, USA.

Out of all the synostotic corrective surgeries, fronto-orbital advancement and cranial vault remodeling for patients with unilateral coronal synostosis is one of the hardest to maintain symmetric and proportional correction without some amount of relapse. Over the course of 20 years operating on these patients, the senior author has made multiple adjustments to compensate for relapse asymmetry, including overcorrection on the affected side, increased points of fixation, periosteal release, and scalp expansion with galeal scoring to minimize tension of the closure. As a result of these interventions, we have seen improved immediate results following surgery. Read More

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ε-Aminocaproic acid versus tranexamic acid in children undergoing complex cranial vault reconstruction for repair of craniosynostosis.

Pediatr Blood Cancer 2021 May 18:e29093. Epub 2021 May 18.

Department of Anesthesiology, Division of Pediatric Anesthesiology, Monroe Carell Jr. Children's Hospital/Vanderbilt University Medical Center, Nashville, Tennessee, USA.

Complex cranial vault reconstruction (CCVR) for pediatric craniosynostosis is a high blood loss surgery, for which antifibrinolytic agents have been shown to reduce bleeding and transfusion requirements. The relative efficacy of ε-aminocaproic acid (EACA) versus tranexamic acid (TXA) has not yet been evaluated in this population. The aim of this retrospective study was to compare perioperative blood loss and transfusion in CCVR patients receiving EACA versus TXA. Read More

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Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation.

BMC Pregnancy Childbirth 2021 May 17;21(1):381. Epub 2021 May 17.

Department of Obstetrics, the Second Affiliated Hospital of Guangzhou Medical University, No. 250 Changgang East Road, Haizhu District, Guangzhou, 510260, Guangdong Province, China.

Background: Meier-Gorlin syndrome 7 (MGS7) is a rare autosomal recessive condition. We reported a fetus diagnosed with Meier-Gorlin syndrome 7. The antenatal sonographic images were presented, and compound heterozygous mutations of CDC45 on chromosome 22 were identified by whole-exome sequencing (WES). Read More

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Otitis Media and Hearing Loss in Patients With Nonsyndromic Craniosynostosis: A Multicenter Study.

Cleft Palate Craniofac J 2021 May 18:10556656211017795. Epub 2021 May 18.

Department of Otolaryngology and Communication Sciences, 12302SUNY Upstate Medical University, Syracuse, NY, USA.

Objectives: The objectives of this study were to: (1) determine the prevalence of otitis media with effusion in patients with nonsyndromic craniosynostosis; (2) determine the prevalence of hearing loss in patients with nonsyndromic craniosynostosis; and (3) identify potential patterns and outcomes in patients with nonsyndromic craniosynostosis.

Methods: A retrospective chart review was conducted at 2 academic institutions, St Christopher's Hospital for Children and SUNY Upstate Medical University, from January 2015 through August 2018, to identify patients having nonsyndromic craniosynostosis with a concurrent diagnosis of otitis media and/or hearing loss. The demographic data and categorical variables were analyzed using descriptive statistics and chi-square testing, respectively. Read More

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Mechanical properties of fused sagittal sutures in scaphocephaly.

Clin Biomech (Bristol, Avon) 2021 Jun 29;86:105369. Epub 2021 Apr 29.

Maxillo-facial Surgery Department, Toulouse University Hospital, Toulouse, France.

Background: Craniosynostosis in newborns is caused by the premature closure of the cranial sutures leading to cranial vault deformity. It results in aesthetic imbalance and developmental disabilities and surgery is frequent during the first months of growth. Our study focused on scaphocephaly defined as the premature closure of the sagittal suture. Read More

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Stress and strain propagation on infant skull from impact loads during falls: a finite element analysis.

Int Biomech 2020 12;7(1):19-34

Biomimetics Laboratory, Instituto De Biotecnología, Universidad Nacional De Colombia , Bogotá, Colombia.

: To simulate infant skull trauma after low height falls when variable degrees of ossification of the sutures are present. : A finite elements model of a four-week-old infant skull was developed for simulating low height impact from 30 cm and 50 cm falls. Two impacts were simulated: An occipito-parietal impact on the lambdoid suture and a lateral impact on the right parietal and six cases were considered: unossified and fully ossified sutures, and sagittal, metopic, right lambdoid and right coronal craniosynostosis. Read More

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December 2020

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Hum Mutat 2021 May 16. Epub 2021 May 16.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Heterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring heterozygous deletions including, or near to, ERF, of which four were characterized by whole-genome sequencing and two by chromosomal microarray. Based on the severity of associated intellectual disability (ID), we identify three categories of ERF-associated deletions. Read More

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