7,484 results match your criteria Craniosynostosis


Machine Learning Applied to Registry Data: Development of a Patient-Specific Prediction Model for Blood Transfusion Requirements During Craniofacial Surgery Using the Pediatric Craniofacial Perioperative Registry Dataset.

Anesth Analg 2020 Jun 30. Epub 2020 Jun 30.

Department of Anesthesia, Perioperative and Pain Medicine, Johns Hopkins All Children's Hospital, St Petersburg, Florida.

Background: Craniosynostosis is the premature fusion of ≥1 cranial sutures and often requires surgical intervention. Surgery may involve extensive osteotomies, which can lead to substantial blood loss. Currently, there are no consensus recommendations for guiding blood conservation or transfusion in this patient population. Read More

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http://dx.doi.org/10.1213/ANE.0000000000004988DOI Listing

Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature.

Childs Nerv Syst 2020 Jul 2. Epub 2020 Jul 2.

Department of Plastic and Reconstructive Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

Objective: The present report aimed to document the clinical features of a case of Marshall-Smith syndrome (MSS), an extremely rare embryonic developmental disorder with associated craniosynostosis.

Patient And Method: We presented herein a case of a 2-year-old female patient with MSS who underwent fronto-orbital advancement for multisuture craniosynostosis.

Results: The patient's proptosis improved after surgery, and no further surgical intervention was required for corneal exposure. Read More

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http://dx.doi.org/10.1007/s00381-020-04741-0DOI Listing

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.

Ann Pediatr Endocrinol Metab 2020 Jun 30;25(2):97-103. Epub 2020 Jun 30.

Depar tment of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Purpose: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, and skeletal dysplasia. In this study, we investigated the clinical, hormonal, and molecular characteristics of patients with POR deficiency in Korea. Read More

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http://dx.doi.org/10.6065/apem.1938152.076DOI Listing

Beare-Stevenson Syndrome With Blepharoptosis as a Complication of Front-Orbital Advancement and Remodeling.

J Craniofac Surg 2020 Jun 24. Epub 2020 Jun 24.

Division of Neurosurgery, University of Alberta, Edmonton, Canada.

Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder characterized by a broad range of congenital malformations including craniosynostosis, cutis gyrata, facial deformities, and abnormal genitalia. The authors report a case of a 7 month old female who developed a mechanical ptosis secondary to dermatochalasis as a complication of fronto-orbital advancement and remodeling (FOAR) surgery which subsequently required multiple lid surgeries to reverse ptosis. This is the first report of blepharoptosis correction in a child with BSS as a complication of FOAR. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006638DOI Listing

Trends in Utilization of Virtual Surgical Planning in Pediatric Craniofacial Surgery.

J Craniofac Surg 2020 Jun 24. Epub 2020 Jun 24.

Division of Plastic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA.

Introduction: While the use of virtual surgical planning (VSP) has been well described in the adult craniofacial literature, there has been little written about pediatric uses or trends. The purpose of this study is to evaluate the evolving utilization of VSP for pediatric craniofacial procedures.

Methods: The authors' prospective institutional review board-approved craniofacial registry was queried for index craniofacial procedures from January 2011 through December 2018. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006626DOI Listing

Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report.

BMC Pediatr 2020 Jun 27;20(1):315. Epub 2020 Jun 27.

Department of Pediatrics, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, China.

Background: PPP3CA gene encodes the catalytic subunit A of a calcium-dependent protein phosphatase called calcineurin. However, two distinct mechanisms in PPP3CA deficiency would cause two clinically different diseases. Gain-of-function mutations in the autoinhibitory domain at the C-terminus would cause ACCIID that stands for arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development. Read More

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http://dx.doi.org/10.1186/s12887-020-02213-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320544PMC

3D printing guided surgery in the treatment of unicoronal craniosynostosis orbital dysmorphology.

Oral Maxillofac Surg 2020 Jun 26. Epub 2020 Jun 26.

Department of Plastic Surgery, Al-Azhar University, 1st Elmokhiam Eldaem St., Madinat Nasr, Cairo, Egypt.

Purpose: The purpose of our study was to improve the minor asymmetries of fronto-orbital advancement (FOA) by introducing a simple model to guide the FOA in unicoronal synostosis which may help saving time and cost.

Methods: A retrospective analysis of 16 consecutive patients with unicoronal synostosis corrected by FOA guided by a guide model. Patients with syndromic craniosynostosis or associated craniofacial anomalies were excluded from the analysis. Read More

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http://dx.doi.org/10.1007/s10006-020-00863-6DOI Listing

Squamous suture obliteration: frequency and investigation of the associated skull morphology.

Anat Sci Int 2020 Jun 26. Epub 2020 Jun 26.

Department of Anatomy and Histology, Medical University of Sofia, 1431, Sofia, Bulgaria.

This study aimed to investigate the frequency of squamous suture (SqS) obliteration, to estimate the involvement of the major calvarial sutures and those surrounding the temporal squama, and to inspect the neuro- and basicranium for deformities. A series of 211 dry skulls of contemporary adult males were macroscopically observed. The skulls with closed SqS were scanned using an industrial µCT system. Read More

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http://dx.doi.org/10.1007/s12565-020-00555-xDOI Listing

Long-term Outcomes of Spring-Assisted Surgery for Sagittal Craniosynostosis.

Plast Reconstr Surg 2020 Jun 23. Epub 2020 Jun 23.

1. Department of Plastic and Reconstructive Surgery, Wake Forest School of Medicine, Winston-Salem, NC 2. Department of Surgery, Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT. 3. Department of Surgery, Division of Plastic Surgery, Carilion Clinic, Roanoke, VA. 4. Department of Neurosurgery, Wake Forest School of Medicine, Winston-Salem, NC.

Background: Spring-assisted surgery (SAS) is an accepted alternative to cranial vault remodeling (CVR) for treatment of sagittal craniosynostosis. The long-term safety and efficacy profiles of SAS have not been established.

Methods: This study is a retrospective exam of all patients treated with SAS (n=175) or CVR (n=50) for sagittal craniosynostosis at our institution from 2003-2017. Read More

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http://dx.doi.org/10.1097/PRS.0000000000007168DOI Listing

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.

Mol Genet Genomic Med 2020 Jun 26:e1364. Epub 2020 Jun 26.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Background: A weakness of exome analysis lies in inability to characterize aberrant splicing other than those involving consensus donor-acceptor sequence. To overcome this limitation, we developed a novel analytic method SAVNet that combines transcriptome and exome analysis which enabled the successful detection of carriers of splicing variants in the disease-causing genes of autosomal recessive disorders within a normal cohort. However, the clinical utility of the SAVNet analysis in delineating splicing defects in patients without a diagnosis has yet to be documented. Read More

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http://dx.doi.org/10.1002/mgg3.1364DOI Listing

Isolation and Characterization of Human Suture Mesenchymal Stem Cells .

Int J Stem Cells 2020 Jun 30. Epub 2020 Jun 30.

Department of Plastic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, China.

Background And Objectives: Cranial sutures play a critical role in adjustment of skull development and brain growth. Premature fusion of cranial sutures leads to craniosynostosis. The aim of the current study was to culture and characterize human cranial suture mesenchymal cells . Read More

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http://dx.doi.org/10.15283/ijsc20024DOI Listing

Craniofacial bone alterations in patients with neurofibromatosis type 1.

Childs Nerv Syst 2020 Jun 25. Epub 2020 Jun 25.

Université Claude Bernard Lyon 1, 43 Boulevard du 11 Novembre 1918, 69100, Villeurbanne, France.

Osseous manifestations of neurofibromatosis 1 (NF-1) occur in a minority of the affected subjects but may be because of significant clinical impairment. Typically, they involve the long bones, commonly the tibia and the fibula, the vertebrae, and the sphenoid wing. The pathogenesis of NF-1 focal osseous lesions and its possible relationships with other osseous NF-1 anomalies leading to short stature are still unknown, though it is likely that they depend on a common mechanism acting in a specific subgroup of NF-1 patients. Read More

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http://dx.doi.org/10.1007/s00381-020-04749-6DOI Listing

GLI1 and AXIN2 Are Distinctive Markers of Human Calvarial Mesenchymal Stromal Cells in Nonsyndromic Craniosynostosis.

Int J Mol Sci 2020 Jun 19;21(12). Epub 2020 Jun 19.

Dipartimento Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

All skeletal bones house osteogenic stem cell niches, in which mesenchymal stromal cells (MSC) provide progenitors for tissue growth and regeneration. They have been widely studied in long bones formed through endochondral ossification. Limited information is available on the composition of the osteogenic niche in flat bones (i. Read More

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http://dx.doi.org/10.3390/ijms21124356DOI Listing

Optimizing Reconstruction in Craniosynostosis: Review of Nonsyndromic Patients Treated With a Novel Technique.

J Craniofac Surg 2020 Jun 15. Epub 2020 Jun 15.

Division of Plastic and Reconstructive Surgery, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.

Purpose: Open cranial vault remodeling (CVR) with autologous split calvarial bone grafts redistributes and recontours an abnormal calvarium to create an expanded cranial vault in patients with craniosynostosis. We report a 12-year retrospective review of 162 nonsyndromic patients who underwent operative repair using our previously-described technique which portends excellent surgical outcomes and can be applied to patients of any age group and with any variety of suture fusion.

Methods: Data was gathered on patients who underwent CVR from 2005 to 2016. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006693DOI Listing

Craniosynostosis in a Painting by Hans Suess Kulmbach.

J Craniofac Surg 2020 Jun 15. Epub 2020 Jun 15.

Department of dermatology, allergology and venereology, Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1097/SCS.0000000000006583DOI Listing

Fronto-Orbital Advance in a Patient With Roberts Syndrome.

J Craniofac Surg 2020 Jun 15. Epub 2020 Jun 15.

Department of Neurosurgery, Nueva Granada Militar University, Militar Central Hospital, Bogotá, Colombia.

Roberts Syndrome is an extremely rare syndrome reporting about 150 cases in the literature, with a very low survival rate. The authors present a case of a female patient with Roberts Syndrome who also had a coronal craniosynostosis. The aim of this case report is to present a case of a patient with Roberts Syndrome with a brachycephaly that required management of fronto-orbital advancement. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006577DOI Listing

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

Bone Res 2020 11;8:24. Epub 2020 Jun 11.

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

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

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http://dx.doi.org/10.1038/s41413-020-0098-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289831PMC

Bilateral Severely Stenotic Jugular Foramen: Diagnosis and Management from the Otologist/Neurotologist Point of View.

Case Rep Otolaryngol 2020 4;2020:1530310. Epub 2020 Jun 4.

Department of Otorhinolaryngology, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.

Bilateral jugular foramen stenosis with jugular bulb and vein aplasia is rare in nonsyndromic craniosynostosis and usually diagnosed during childhood. We present a case of bilateral jugular foramen stenosis with jugular bulb and vein aplasia, with subsequent persistence and enlargement of the fetal venous anastomosis in the middle and posterior cranial fossa, along with a review of the literature about this anatomical abnormality, highlighting the surgical challenges and management from the otologist/neurotologist point of view. Read More

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http://dx.doi.org/10.1155/2020/1530310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7293727PMC

Temporal Fat Grafting in Children With Craniofacial Anomalies.

Ann Plast Surg 2020 Jun 11. Epub 2020 Jun 11.

From the Division of Plastic and Reconstructive Surgery.

Background: Fat grafting is a common adjunct procedure used to treat temporal fat hollowing in children with craniofacial anomalies. The goal of this study was to assess the surgical and aesthetic outcomes of this procedure.

Methods: We retrospectively reviewed patients who underwent temporal fat grafting at a single tertiary pediatric craniofacial center. Read More

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http://dx.doi.org/10.1097/SAP.0000000000002431DOI Listing

Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology.

Fetal Pediatr Pathol 2020 Jun 15:1-12. Epub 2020 Jun 15.

Obstetrics, Federal University of Sao Paulo Paulista Medical School, Sao Paulo, Brazil.

Apert syndrome is characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly. A 36-year-old mother, G2P1 underwent an ultrasound scan at 19 week's gestation. There was craniosynostosis, brachi-turricephaly and bilateral hand syndactyly. Read More

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http://dx.doi.org/10.1080/15513815.2020.1775732DOI Listing

Craniosynostosis in an Indian Scenario: A Long-term Follow-up.

Plast Reconstr Surg Glob Open 2020 Mar 27;8(3):e2696. Epub 2020 Mar 27.

Department of Plastic Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Craniofacial surgery as a subspecialty has finally taken off in India. Young plastic surgeons in the early 1990s became fascinated by its enormous scope. The author was also among the lucky ones to be trained in this field with Dr. Read More

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http://dx.doi.org/10.1097/GOX.0000000000002696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253269PMC

Assessment of Epidemiological Trends in Craniosynostosis: Limitations of the Current Classification System.

Plast Reconstr Surg Glob Open 2020 Mar 25;8(3):e2597. Epub 2020 Mar 25.

Department of Plastic Surgery, Vanderbilt University Medical Center, Nashville, Tenn.

Craniosynostosis affects 1 in 2,000 live births, which makes it one of the most common craniofacial abnormalities in the United States. Despite this fact, few national epidemiologic reports exist, although US and European studies have reported an increased incidence of metopic craniosynostosis. The aim of our study is to analyze the National Inpatient Sample (NIS) to support those conclusions. Read More

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http://dx.doi.org/10.1097/GOX.0000000000002597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253271PMC

3D pediatric cranial bone imaging using high-resolution MRI for visualizing cranial sutures: a pilot study.

J Neurosurg Pediatr 2020 Jun 12:1-7. Epub 2020 Jun 12.

2Mallinckrodt Institute of Radiology, and.

Objective: There is an unmet need to perform imaging in young children and obtain CT-equivalent cranial bone images without subjecting the patients to radiation. In this study, the authors propose using a high-resolution fast low-angle shot golden-angle 3D stack-of-stars radial volumetric interpolated breath-hold examination (GA-VIBE) MRI sequence that is intrinsically robust to motion and has enhanced bone versus soft-tissue contrast.

Methods: Patients younger than 11 years of age, who underwent clinical head CT scanning for craniosynostosis or other cranial malformations, were eligible for the study. Read More

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http://dx.doi.org/10.3171/2020.4.PEDS20131DOI Listing

Impact of multidisciplinary engagement in a quality improvement blood conservation protocol for craniosynostosis.

J Neurosurg Pediatr 2020 Jun 12:1-9. Epub 2020 Jun 12.

1Case Western Reserve University, Cleveland.

Objective: Patients undergoing open cranial vault remodeling for craniosynostosis frequently experience substantial blood loss requiring blood transfusion. Multiple reports in the literature have evaluated the impact of individual blood conservation techniques on blood transfusion rates during craniosynostosis surgery. The authors engaged a multidisciplinary team and assessed the impact of input from multiple stakeholders on the evolution of a comprehensive quality improvement protocol aimed at reducing or eliminating blood transfusion in patients undergoing open surgery for craniosynostosis. Read More

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http://dx.doi.org/10.3171/2020.4.PEDS19633DOI Listing

Sonographic indicators of isolated fetal sagittal craniosynostosis during pregnancy.

J Med Imaging Radiat Oncol 2020 Jun 12. Epub 2020 Jun 12.

Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.

Introduction: The antenatal diagnosis of sagittal craniosynostosis can be challenging, but there are several published papers describing a traumatic outcome to both the affected fetus and the mother during delivery of a scaphocephalic child. The antenatal imaging from affected children was collected along with the mother's obstetric history. The aim of this study was to identify antenatal ultrasound features that may assist the diagnosis of sagittal synostosis before birth, to enable appropriate delivery planning and avoid both maternal and fetal trauma during birth. Read More

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http://dx.doi.org/10.1111/1754-9485.13068DOI Listing

Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion.

Birth Defects Res 2020 Jun 11;112(10):740-748. Epub 2020 Jun 11.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

Objective: Craniosynostosis (CS) is the premature fusion of the cranial sutures, occurring either in isolated or syndromic form. Syndromic CS, which was described in over 180 genetic syndromes, accounts for 15-30% of all CS cases and usually originates from mutations within the FGFR1, FGFR2, FGFR3, and TWIST1 genes. However, causative alterations in other genes, or rarely copy number variations (CNVs) were also reported. Read More

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http://dx.doi.org/10.1002/bdr2.1744DOI Listing

Sporting activity after craniosynostosis surgery in children: a source of parental anxiety.

Childs Nerv Syst 2020 Jun 11. Epub 2020 Jun 11.

Craniofacial Unit, Great Ormond Street Hospital, London, UK.

Purpose: Craniosynostosis correction involves major skull surgery in infancy-a potential source of worry for parents when their treated children begin involvement in sports.

Methods: Electronic multiple choice survey of parents of children who had undergone craniosynostosis surgery in infancy using 5-point Likert scales.

Results: Fifty-nine completed surveys were obtained from parents of children who had undergone previous craniosynostosis surgery. Read More

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http://dx.doi.org/10.1007/s00381-020-04723-2DOI Listing

Dose Comparison of Epsilon-Aminocaproic Acid to Reduce Blood Loss in Infants Undergoing Cranial Vault Reconstruction Surgery: A Retrospective Pilot Study.

J Clin Anesth 2020 Jun 7;66:109952. Epub 2020 Jun 7.

Texas Tech University Health Sciences Center, Department of Otolaryngology, 3601 4(th) St. Mail Stop 8312, Lubbock, TX 79430, USA.

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http://dx.doi.org/10.1016/j.jclinane.2020.109952DOI Listing
June 2020
1.210 Impact Factor

"Black bone": the new backbone in CAD/CAM-assisted craniosynostosis surgery?

Acta Neurochir (Wien) 2020 Jun 9. Epub 2020 Jun 9.

Department of Neurosurgery, Leipzig University, Liebigstraße 12, 04103, Leipzig, Germany.

Background: Computer-assisted design and manufacturing (CAD/CAM) techniques have been implemented in craniosynostosis surgery to facilitate cranial remodeling. However, until now, computed tomography (CT) scans with ionizing radiation were necessary to plan the procedure and create guiding templates. The purpose of this study was to present our series using CAD/CAM techniques in planning and conducting fronto-orbital advancement surgery in patients with trigonocephaly with datasets acquired only by "black bone" magnetic resonance imaging (MRI). Read More

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http://dx.doi.org/10.1007/s00701-020-04445-zDOI Listing

A novel therapeutic hypothesis for craniosynostosis syndromes: Clover to clever.

Med Hypotheses 2020 May 23;144:109837. Epub 2020 May 23.

Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, School of Optometry, Shenzhen University, Shenzhen, China; Xiamen Eye Center, Xiamen University, Xiamen, China. Electronic address:

Cloverleaf skull is a complex skull deformity named after its cloverleaf shape. The primary pathogenic factor is craniosynostosis. Craniosynostosis could result in limited development of skull, brain, maxillofacial and nervous system, thus arising a series of complex syndromes, including Crouzon, Apert, Pfeiffer, Saethre-Chotzen and Muenke syndromes. Read More

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http://dx.doi.org/10.1016/j.mehy.2020.109837DOI Listing

Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.

Mol Genet Genomic Med 2020 Jun 8:e1266. Epub 2020 Jun 8.

Departamento de Biología Molecular e Histocompatibilidad, Hospital General "Dr. Manuel Gea González", Ciudad de México, México.

Background: Craniosynostosis is one of the major genetic disorders affecting 1 in 2,100-2,500 live newborn children. Environmental and genetic factors are involved in the manifestation of this disease. The suggested genetic causes of craniosynostosis are pathogenic variants in FGFR1, FGFR2, FGFR3, and TWIST1 genes. Read More

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http://dx.doi.org/10.1002/mgg3.1266DOI Listing

Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation.

Stem Cell Res 2020 May 19;46:101823. Epub 2020 May 19.

Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA. Electronic address:

Muenke syndrome is the leading genetic cause of craniosynostosis and results in a variety of disabling clinical phenotypes. To model the disease and study the pathogenic mechanisms, a human induced pluripotent stem cell (hiPSC) line was generated from a patient diagnosed with Muenke syndrome. Successful reprogramming was validated by morphological features, karyotyping, loss of reprogramming factors, expression of pluripotency markers, mutation analysis and teratoma formation. Read More

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http://dx.doi.org/10.1016/j.scr.2020.101823DOI Listing

Craniometric and Volumetric Analyses of Cranial Base and Cranial Vault Differences in Patients With Nonsyndromic Single-Suture Sagittal Craniosynostosis.

J Craniofac Surg 2020 Jun;31(4):1010-1014

Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.

Purpose: How different from "normal" are the cranial base and vault of infants with nonsyndromic, single-suture sagittal synostosis (NSSS)? This study quantitatively addresses this question utilizing computed tomography (CT) analytic technology.

Method: Head CT scans of infants with NSSS and normocephalic controls were analyzed using Mimics to calculate craniometric angles, distances, and segmented volumes. Craniometric measurements and asymmetry indices were compared between NSSS and control groups using linear regressions controlling for age. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006492DOI Listing

Long Term Speech Outcomes Following Midface Advancement in Syndromic Craniosynostosis.

J Craniofac Surg 2020 Jun 2. Epub 2020 Jun 2.

Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA.

Midface advancement by distraction osteogenesis (DO) is commonly performed in patients with craniosynostosis for indications including midface hypoplasia, exorbitism, obstructive sleep apnea, class III malocclusion, and overall aesthetic facial deficiency. There is evidence to suggest that maxillary LeFort I advancement increases the risk of velopharyngeal dysfunction in the cleft palate population, yet few studies have investigated changes in speech following LeFort III or monobloc midface advancement in patients with syndromic craniosynostosis. The purpose of this study was to examine the effect of midface DO on speech as indicated by the Pittsburgh Weighted Speech Score in patients with Apert, Crouzon, and Pfeiffer Syndrome. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006581DOI Listing

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Genet Med 2020 Jun 5. Epub 2020 Jun 5.

MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

Purpose: Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism near BMP2 (rs1884302) was proposed to contribute to inconsistent penetrance. We determined the occurrence of SMAD6 variants in all types of craniosynostosis, evaluated the impact of different missense variants on SMAD6 function, and tested independently whether rs1884302 genotype significantly modifies the phenotype.

Methods: We performed resequencing of SMAD6 in 795 unsolved patients with any type of craniosynostosis and genotyped rs1884302 in SMAD6-positive individuals and relatives. Read More

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http://dx.doi.org/10.1038/s41436-020-0817-2DOI Listing

The Use of Eye Tracking to Discern the Threshold at Which Metopic Orbitofrontal Deformity Attracts Attention.

Cleft Palate Craniofac J 2020 Jun 3:1055665620926014. Epub 2020 Jun 3.

Department of Plastic Surgery, UT Southwestern, Dallas, TX, USA.

Introduction And Objectives: Surgical treatment for trigonocephaly aims to eliminate a stigmatizing deformity, yet the severity that captures unwanted attention is unknown. Surgeons intervene at different points of severity, eliciting controversy. This study used eye tracking to investigate when deformity is perceived. Read More

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http://dx.doi.org/10.1177/1055665620926014DOI Listing

Optimizing Perioperative Red Blood Cell Utilization and Wastage in Pediatric Craniofacial Surgery.

J Craniofac Surg 2020 May 14. Epub 2020 May 14.

Division of Anesthesiology, Pain and Perioperative Medicine.

Utilization, wastage, and adverse consequences of assigning one full red blood cell (RBC) unit were investigated for children undergoing craniosynostosis surgery. The authors hypothesized that significant RBC wastage in the perioperative period exists for pediatric craniofacial surgery. The authors sought to determine what factors could guide patient-specific blood product preparation by evaluating utilization and wastage of RBCs in pediatric patients undergoing surgical correction of craniosynostosis. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006523DOI Listing
May 2020
0.676 Impact Factor

Saethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature.

Ann Plast Surg 2020 Jun 1. Epub 2020 Jun 1.

Division of Plastic and Reconstructive Surgery, Department of Surgery, University of California Los Angeles Medical Center, Los Angeles, CA.

Introduction: Saethre-Chotzen syndrome is a genetic condition characterized by craniofacial and limb anomalies, with craniosynostosis (mainly coronal) being the most frequent craniofacial finding. Cranial and facial deformities can be extremely variable requiring individualization of treatment strategies. We present our case series to highlight clinical findings, treatment philosophy, and challenges facing Saethre-Chotzen patients. Read More

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http://dx.doi.org/10.1097/SAP.0000000000002391DOI Listing
June 2020
1.458 Impact Factor

Prioritizing Pediatricians' Neurosurgical Education: Results From a National Survey of Primary Care Pediatricians.

Clin Pediatr (Phila) 2020 May 30:9922820928060. Epub 2020 May 30.

Nicklaus Children's Hospital, Miami, FL, USA.

. We surveyed nonretired American Academy of Pediatrics-member US pediatricians regarding common neurosurgical conditions, identifying specific areas of focus in education. . Read More

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http://dx.doi.org/10.1177/0009922820928060DOI Listing

Age at craniosynostosis surgery and its impact on ophthalmologic diagnoses: A single-center retrospective review.

Plast Reconstr Surg 2020 May 26. Epub 2020 May 26.

Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School.

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http://dx.doi.org/10.1097/PRS.0000000000007111DOI Listing
May 2020
2.993 Impact Factor

Viral delivery of tissue nonspecific alkaline phosphatase diminishes craniosynostosis in one of two FGFR2C342Y/+ mouse models of Crouzon syndrome.

PLoS One 2020 29;15(5):e0234073. Epub 2020 May 29.

Department of Orthodontics and Pediatric Dentistry, School of Dentistry, University of Michigan, Ann Arbor, Michigan, United States of America.

Craniosynostosis is the premature fusion of cranial bones. The goal of this study was to determine if delivery of recombinant tissue nonspecific alkaline phosphatase (TNAP) could prevent or diminish the severity of craniosynostosis in a C57BL/6 FGFR2C342Y/+ model of neonatal onset craniosynostosis or a BALB/c FGFR2C342Y/+ model of postnatal onset craniosynostosis. Mice were injected with a lentivirus encoding a mineral targeted form of TNAP immediately after birth. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0234073PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7259715PMC

Prenatal diagnosis of central nervous system abnormalities: Neurosonography versus fetal magnetic resonance imaging.

Eur J Obstet Gynecol Reprod Biol 2020 May 13;250:195-202. Epub 2020 May 13.

Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Ankara, Turkey.

Objective: To share our experience in diagnosis of congenital central nervous system (CNS) abnormalities by fetal magnetic resonance imaging (MRI).

Study Design: This study consisted of 110 pregnancies. Neurosonography (NS) findings were compared with MRI results. Read More

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http://dx.doi.org/10.1016/j.ejogrb.2020.05.013DOI Listing

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.

Birth Defects Res 2020 May 27. Epub 2020 May 27.

UOC Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Background: Several somatic mutations in TRAF7 have been reported in cancers, whereas a few germline heterozygous mutations have been recently linked to a neurodevelopmental disorder, characterized by craniofacial dysmorphisms, congenital heart defects, and digital anomalies.

Cases: We report two subjects harboring de novo heterozygous missense variants in TRAF7, namely the recurrent 1964G>A(p.Arg655Gln) and the novel missense c. Read More

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http://dx.doi.org/10.1002/bdr2.1711DOI Listing

Ovotesticular disorders of sex development (DSD) in FGF9 mouse models of human synostosis syndromes.

Hum Mol Genet 2020 May 26. Epub 2020 May 26.

Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Molecular Genetics and Development Laboratory, Melbourne, 3168, Australia.

In mice, male sex determination depends on FGF9 signalling via FGFR2c in the bipotential gonads to maintain expression of the key testis gene SOX9. In humans however, while FGFR2 mutations have been linked to 46,XY disorders of sex development (DSD), the role of FGF9 is unresolved. The only reported pathogenic mutations in human FGF9; FGF9S99N and FGF9R62G, are dominant, and result in craniosynostosis (fusion of cranial sutures) or multiple synostoses (fusion of limb joints). Read More

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http://dx.doi.org/10.1093/hmg/ddaa100DOI Listing
May 2020
6.393 Impact Factor

The coronal suture: an ultrasonographic window of fetal cranial and brain abnormalities.

Ultrasound Obstet Gynecol 2020 May 25. Epub 2020 May 25.

Service de gynécologie obstétrique hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1002/uog.22094DOI Listing

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 Jun 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes have been shown to cause severe developmental and adult syndromes, referred to as SOXopathies. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020
10.931 Impact Factor

Utilization of a Simple Surgical Guide for Multidirectional Cranial Distraction Osteogenesis in Craniosynostosis.

Plast Reconstr Surg Glob Open 2020 Apr 29;8(4):e2797. Epub 2020 Apr 29.

Department of Plastic and Reconstructive Surgery, Okayama University Hospital, Okayama, Japan.

Background: Multidirectional cranial distraction osteogenesis (MCDO) can achieve a desired shape for deformities of the cranium. In the past, visual estimation was used to reflect on the actual skull, but it was time-consuming and inaccurate. Here we demonstrate an effective osteotomy navigation method using surgical guides made from a dental impression silicone. Read More

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http://dx.doi.org/10.1097/GOX.0000000000002797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209894PMC