OBJECTIVE: To analyze the clinical and genetic characteristics of an infant with craniosynostosis. METHODS: An infant who was admitted to Wuhan Children's Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in April 2021 due to widening of the lateral ventricles for over a month was selected as the study subject. Clinical data of the patient was collected. Peripheral blood samples were collected from the infant and her parents for chromosomal karyotyping and whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was retrieved from the PubMed, Wanfang and CNKI databases (up to December 2021) by using key words including ERF gene, craniosynostosis, ERF mutation, craniosynostosis and ERF-related craniosynostosis. RESULTS: The infant, a 1-month-and-16-day-old female, was found to have sagittal synostosis by cranial X-ray radiography. Genetic testing revealed that she has harbored a heterozygous c.787C>T (p.Q263*) variant of the ERF gene, which was not found in either parent. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as pathogenic (PVS1+PS2+PM2_Supporting). In total 63 relevant cases were retrieved from the database, and a total of 64 individuals were analyzed by genetic testing. Most of the cases were sporadic and males. Multiple cranial sutures (including at least two of the sagittal suture, coronal suture, lambdoid suture, and frontal suture) were involved in 45.45% of the cases, and those with sagittal suture closure only have accounted for 20.00%. The main clinical manifestations have included hypertelorism, exophthalmos, development delay, malar dysplasia, etc. Chiari type 1 malformation may present in some patients. Variants of the ERF gene have mainly included splicing and deletional variants, and there was a strong genetic heterogeneity among the infants and their pedigrees. CONCLUSION The c.787C>T (p.Q263*) variant of the ERF gene probably underlay the craniosynostosis of this infant. Above finding has enriched the phenotype ~ genotype spectrum of the ERF gene.
Female ; Humans ; Cranial Sutures/surgery* ; Craniosynostoses/genetics* ; Genetic Testing ; Mutation ; Repressor Proteins/genetics* ; Infant

Rapid palatal expansion is commonly uesd to correct maxillary transverse deficiency. The timing and effects of palatal expansion, and the choice of palatal expansion devices are related to the condition of midpalatal suture. Nowadays, there are several methods to assess the condition of midpalatal suture, including physiological age, skeletal age, occlusal film, CT, ultrasonography and so on. This narrative review seeks to review these methods for assessment of midpalatal suture.
Palatal Expansion Technique ; Cranial Sutures/diagnostic imaging* ; Maxilla/diagnostic imaging* ; Palate/diagnostic imaging*

Craniofacial malformation caused by premature fusion of cranial suture of infants has a serious impact on their growth. The purpose of skull remodeling surgery for infants with craniosynostosis is to expand the skull and allow the brain to grow properly. There are no standardized treatments for skull remodeling surgery at the present, and the postoperative effect can be hardly assessed reasonably. Children with sagittal craniosynostosis were selected as the research objects. By analyzing the morphological characteristics of the patients, the point cloud registration of the skull distortion region with the ideal skull model was performed, and a plan of skull cutting and remodeling surgery was generated. A finite element model of the infant skull was used to predict the growth trend after remodeling surgery. Finally, an experimental study of surgery simulation was carried out with a child with a typical sagittal craniosynostosis. The evaluation results showed that the repositioning and stitching of bone plates effectively improved the morphology of the abnormal parts of the skull and had a normal growth trend. The child's preoperative cephalic index was 65.31%, and became 71.50% after 9 months' growth simulation. The simulation of the skull remodeling provides a reference for surgical plan design. The skull remodeling approach significantly improves postoperative effect, and it could be extended to the generation of cutting and remodeling plans and postoperative evaluations for treatment on other types of craniosynostosis.
Child ; Computer Simulation ; Cranial Sutures/surgery* ; Craniosynostoses/surgery* ; Humans ; Infant ; Skull/surgery*

Objective To explore the value of degree of cranial suture closure in forensic adult age estimation by thin-layer CT scan and establish an adult age estimation model of the Han nationality. Methods Thin-layer CT scan samples of the heads of 220 healthy Sichuan Han adults （110 males, 110 females） aged 20 to 70 were collected, of which 20 samples （10 males, 10 females） were randomly selected as test samples. The sagittal suture, coronal suture （both left and right） and lambdoid suture （both left and right） were respectively and equally divided into 2 segments, and every segment was equally divided into 10 layers and the corresponding multiplanar reformation （MPR） images were selected. The closure of cranial sutures on MPR images was classified into the grades 1-7. The correlations between cranial sutures and age were analyzed to build regression equation for age estimation. Results The degree of closure of sagittal suture, coronal suture （both left and right） and lambdoid suture （both left and right） was positively correlated with age. The coefficient of determination （R²） of regression equation was 0.419 in males, 0.589 in females, and 0.522 in all samples. The results of the verification test showed that the mean absolute error （MAE） was 6.39 years in males, 6.16 years in females, and 6.29 years in all samples. Conclusion There was a higher accuracy in adult age estimation by thin-layer CT scan of cranial sutures. The age of Han nationality adults can be estimated by the degree of cranial sutures closure.
Cranial Sutures/diagnostic imaging* ; Female ; Head ; Male ; Tomography, X-Ray Computed

OBJECTIVE: To investigate the correlation between morphological stages of midpalatal suture (MPS) and Demirjian dental age. METHODS: In this retrospective study, 1 076 cone-beam CT (CBCT) images (female: 675, male: 401; age range: 6.0 to 21.0 years) were included. Horizontal view of each sample's CBCT images was observed, each sample's MPS stage was recorded, and dental age. MPS stage and dental age were ordered with categorical variables. Therefore, their correlation was investigated through Spearman correlation coefficient analysis and diagnostic test analysis. RESULTS: (1) For left lower second premolar: 95.2% of those in dental age stage B-D were in MPS 1-2, accounting for the largest proportion. 85.3% of those in dental age stage E were in MPS 1-2, still accounting for the largest proportion. Another 14.7% were in MPS 3.45.1% of those in dental age stage F were in MPS 3, 46.1% in MPS 1-2, and another 8.8% in MPS 4s1.49.8% of those in dental age stage G were in MPS 3.24.9% in MPS 4s1, and 18.9% in MPS 1-2.80.1% of those in dental age stage H were in MPS 4-5. Another 16.3% were in MPS 3. (2) For left lower second molar: 89.7% of those in dental age stage B-D were in MPS 1-2, accounting for the largest proportion. 67.4% of those in dental age stage E were in MPS 1-2, still accounting for the largest proportion. Another 26.1% were in MPS 3.55.3% of those in dental age stage F were in MPS 3, 34.2% in MPS 1-2, and another 10.5% in MPS 4s1.50.7% of those in dental age stage G were in MPS 3, 24.3% in MPS 4s1, and 16.8% in MPS 1-2.83.8% of those in dental age stage H were in MPS 4-5, another 14.2% were in MPS 3. (3) To diagnose MPS stage with dental age, diagnostic pairs with good performance included: Dental age of left lower second molar-MPS: H-4s2, H-5, D-1; Dental age of left lower second premolar-MPS: H-4s2, H-5, G-3. Other diagnostic pairs were of ordinary diagnostic efficiency. (4) For dental age-MPS Spearman correlation analysis, dental age of left lower second molar-MPS had the highest Spearman coefficient (0.68), dental age of left lower second premolar-MPS was the second high (0.64). (5) Dental age stage H of left lower second molar or left lower second premolar indicated that the individual was later than MPS 4s2. CONCLUSION Dental age's diagnostic efficiency for MPS stage is ordinary on the whole, except for some pairs with good performance. Therefore, pre-treatment CBCT examination should be considered as assistance for evaluating maturation and fusion status of midpalatal suture.
Adolescent ; Adult ; Child ; China ; Cone-Beam Computed Tomography ; Cranial Sutures/diagnostic imaging* ; Female ; Humans ; Male ; Retrospective Studies ; Sutures ; Young Adult

Baller-Gerold syndrome is a rare autosomal recessive disorder characterized by premature fusion of the cranial sutures and malformation of the upper limb extremities at birth. Although the pathogenesis of Baller-Gerold Syndrome is not fully understood, it is mainly caused by mutations in the RecQ like helicase 4 (RECQL4) gene located on chromosome 8q24.3, which encodes the RECQL4 protein involved in normal DNA replication and repair. This study reports the case of a female premature infant with craniosynostosis of bilateral coronal sutures, resulting in a dysmorphic face and hypoplastic thumbs on both hands at birth, which are consistent with the core characteristics of Baller-Gerold syndrome. Diagnostic whole exome sequencing of the patient revealed a homozygous deletion from exon 13 to 18 in the RECQL4 gene. To the best of my knowledge, this is the first reported case of Baller-Gerold syndrome with RECQL4 gene mutation confirmed by diagnostic whole exome sequencing in Korea.
Cranial Sutures ; Craniosynostoses ; DNA Replication ; Exome ; Exons ; Extremities ; Female ; Hand ; Hand Deformities ; Humans ; Infant, Newborn ; Infant, Premature ; Korea ; Parturition ; Sutures ; Thumb ; Upper Extremity

Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription factor 2 (RUNX2), a master regulator of bone formation, have been identified in CCD patients. The aim of this study was to identify the molecular genetic causes in a CCD family with delayed tooth eruption.The 23-year-old female proband and her mother underwent clinical and radiographic examinations, and all coding exons of the RUNX2 were sequenced. Mutational analysis revealed a single nucleotide deletion mutation (NM_001024630.4 : c.357delC) in exon 3 in the proband and her mother. The single C deletion would result in a frameshift in translation and introduce a premature stop codon [p.(Asn120Thrfs*24)]. This would result in the impaired function of RUNX2 protein, which may be the cause of delayed eruption of permanent teeth in the family.
Clavicle ; Cleidocranial Dysplasia ; Clinical Coding ; Codon, Nonsense ; Core Binding Factor Alpha 1 Subunit ; Cranial Sutures ; Exons ; Female ; Humans ; Molecular Biology ; Mothers ; Osteogenesis ; Sequence Deletion ; Tooth ; Tooth Eruption ; Tooth, Supernumerary ; Transcription Factors ; Young Adult

Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal skull and face can increase the detection rate. When an abnormality is found, it is important to perform a detailed scan to determine its severity and search for additional abnormalities. The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some syndromes is feasible if the family history is suggestive.
Brain ; Chromosome Aberrations ; Cleft Palate ; Cranial Sutures ; Craniofacial Abnormalities* ; Craniosynostoses ; Female ; Fetus ; Humans ; Magnetic Resonance Imaging ; Micrognathism ; Palate ; Pregnancy ; Pregnancy Trimester, First ; Prenatal Diagnosis ; Skull ; Ultrasonography ; Ultrasonography, Prenatal*

Sex estimation is one of the crucial procedures in the biological profile identification of human skeletal remains. Knowing sex of unknown case can lead to accurate and appropriate methods for predicting age, stature, ancestry, or even personal identification. Skull is one of the most reliable one among other skeletons and it is usually retained for both archaeological and forensic contexts. Although many morphological features and metric measurements of skull have been studied for sexing, but to the best of our knowledge is no study on maxillary suture length for sex estimation. Therefore, this study aims to develop a new sex estimation method for a Thai population by determining three maxillary suture lengths: anterior, transverse, and posterior maxillary suture, by computerizing amount of pixel obtained from photographs of these sutures. The present study was conducted on 190 Thai bone samples of which 96 were males and 94 were females. Independent t test revealed statistically significant difference (P < 0.01) between males and females in all maxillary suture measurements. Equations derived from prediction model, which required three maxillary suture lengths gave 76.8421% accuracy from the leave-one-out cross validation in estimating sex percentage accuracies in predicting sex from these equations, which were relatively moderate. This study provides a novel and objective sex estimation method for Thais. It suggests that maxillary suture length can be applied for sex estimation. The new computerized technique will contribute basis knowledge and method for sex estimation, especially when only base of skull is available in forensic circumstance.
Asian Continental Ancestry Group* ; Cranial Sutures ; Female ; Humans ; Male ; Methods* ; Sex Determination Analysis ; Skeleton ; Skull ; Skull Base ; Sutures* ; Thailand

PURPOSE: To report the treatment results of a frontotemporal dermoid cyst with a cutaneous fistula and sinus tract that caused recurrent periorbital cellulitis in a child. CASE SUMMARY: A 4-year-old girl who presented with left orbital swelling and tenderness visited our hospital. She had a cutaneous fistula with a small amount of purulent discharge at the left frontotemporal area. Orbital computed tomography scans showed a well-defined low density lesion in the fronto-zygomatic suture, and there was a bony defect in the left greater wing of the sphenoid bone of the orbit. Orbital magnetic resonance imaging showed a cutaneous fistula and sinus tract that extended into the middle cranial fossa. The patient was treated with intravenous antibiotics until the inflammation was resolved. Surgery was performed to remove the dermoid cyst with sinus tract. After surgery, there was no evidence of recurrence, and complications included neurologic and ophthalmic symptoms. CONCLUSIONS: Orbitofacial lesions, particularly frontotemporal cutaneous fistulas that present with recurrent discharge, should be regarded with suspicion in cases of deep extended dermoid cysts with sinus tract. Additionally, imaging tests should be carefully conducted before surgery.
Anti-Bacterial Agents ; Cellulitis ; Child* ; Child, Preschool ; Cranial Fossa, Middle ; Cutaneous Fistula ; Dermoid Cyst* ; Female ; Fistula ; Humans ; Inflammation ; Magnetic Resonance Imaging ; Orbit ; Recurrence ; Sphenoid Bone ; Sutures