Study of Pattern of Fusion of Coronal Suture Using Skull Radiography and its Association with Documented Age in Males

Abstract Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in approximately 1 in 2250 births. The causes are heterogeneous, with a monogenic basis identified in ~25% of patients. Using whole-genome sequencing, we identified a novel, de novo variant in BCL11B, c.7C>A, encoding an R3S substitution (p.R3S), in a male patient with coronal suture synostosis. BCL11B is a transcription factor that interacts directly with the nucleosome remodelling and deacetylation complex (NuRD) and polycomb-related complex 2 (PRC2) through the invariant proteins RBBP4 and RBBP7. The p.R3S substitution occurs within a conserved amino-terminal motif (RRKQxxP) of BCL11B and reduces interaction with both transcriptional complexes. Equilibrium binding studies and molecular dynamics simulations show that the p.R3S substitution disrupts ionic coordination between BCL11B and the RBBP4–MTA1 complex, a subassembly of the NuRD complex, and increases the conformational flexibility of Arg-4, Lys-5 and Gln-6 of BCL11B. These alterations collectively reduce the affinity of BCL11B p.R3S for the RBBP4–MTA1 complex by nearly an order of magnitude. We generated a mouse model of the BCL11B p.R3S substitution using a CRISPR-Cas9-based approach, and we report herein that these mice exhibit craniosynostosis of the coronal suture, as well as other cranial sutures. This finding provides strong evidence that the BCL11B p.R3S substitution is causally associated with craniosynostosis and confirms an important role for BCL11B in the maintenance of cranial suture patency.

Download Full-text

Early Neuromotor Behavior in Craniosynostotic Rabbits

The Cleft Palate-Craniofacial Journal ◽

10.1597/1545-1569_2003_040_0486_enbicr_2.0.co_2 ◽

2003 ◽

Vol 40 (5) ◽

pp. 486-492 ◽

Cited By ~ 3

Author(s):

Ronal L. Mitchell ◽

Timothy E. Barbano ◽

H. Wolfgang Losken ◽

Michael I. Siegel ◽

Mark P. Mooney

Keyword(s):

Early Onset ◽

Rabbit Model ◽

Zealand White Rabbit ◽

Psychomotor Development ◽

Activity Levels ◽

Coronal Suture ◽

Wild Type ◽

Significant Group ◽

Delayed Onset ◽

Neuromotor Development

Objective Clinical studies have shown both abnormal and normal mental and psychomotor development in patients with craniosynostosis. However, a number of confounding variables make study comparisons difficult. For these reasons, the present study describes early neuromotor development in an homogeneous rabbit model of craniosynostosis. Design Fifty-three newborn New Zealand white rabbit kits were used: 13 were wild-type, normal control rabbits; 23 had delayed-onset coronal suture synostosis (onset is approximately 57 to 74 days post conception); and 17 had early-onset coronal suture synostosis (onset is approximately 21 to 25 days post conception). All rabbits were observed individually and blindly in an open field, daily for 2 minutes, from birth through the first 14 days of life. The first day of emergence of 10 different mature behaviors and developmental events (in developmental order of appearance: falling, righting, cliff avoidance, first sign of fur, body elevation, head elevation, circling, dragging, eye opening, and hopping) was recorded for each kit. Daily activity levels (grid crossing), and body weights were also recorded. Results Significant group (p < .05) differences were observed in 9 of 11 measures. Both synostosed groups had significantly (p < .05) accelerated onset of behavior in 8 of 9 measures, compared with wild-type controls. The early-onset synostosis group had significantly (p < .05) accelerated onset in five of eight measures, compared with wild-type controls, and three of eight measures, compared with the delayed-onset synostosis group. Conclusions Synostotic rabbits showed precocious neuromotor development possibly through frontal lobe constrictions and altered brain activity from increased intracranial pressure, although primary genetic effects cannot be ruled out.

Download Full-text

COSTS AND BENEFITS OF SKULL RADIOGRAPHY FOR HEAD INJURY

The Lancet ◽

10.1016/s0140-6736(81)90197-5 ◽

1981 ◽

Vol 318 (8250) ◽

pp. 791-795

Keyword(s):

Head Injury ◽

Costs And Benefits ◽

Skull Radiography

Download Full-text

Development of a Strain of Rabbits with Congenital Simple Nonsyndromic Coronal Suture Synostosis Part I: Breeding Demographics, Inheritance Pattern, and Craniofacial Anomalies

The Cleft Palate-Craniofacial Journal ◽

10.1597/1545-1569_1994_031_0001_doasor_2.3.co_2 ◽

1994 ◽

Vol 31 (1) ◽

pp. 1-7 ◽

Cited By ~ 27

Author(s):

Mark P. Mooney ◽

H. Losken Wolfgang ◽

Michael I. Siegel ◽

Janice F. Lalikos ◽

Albert Losken ◽

...

Keyword(s):

Litter Size ◽

Rabbit Model ◽

Pedigree Analysis ◽

Human Populations ◽

Incomplete Penetrance ◽

Coronal Suture ◽

Inheritance Pattern ◽

Average Litter Size ◽

Midfacial Hypoplasia ◽

Congenital Condition

The lack of an animal model of congenital coronal suture (CS) synostosis has prompted the widespread use of an experimental rabbit model using adhesive Immobilization of the CS. Such postnatal models have helped make significant scientific contributions but may still not fully represent all aspects of the human congenital condition. In the March 1993 issue of The Cleft Palate-Craniofacial Journal we reported a female rabbit born in our laboratory with complete bilateral CS synostosis. This follow-up study presents our attempts to breed this animal and establish a strain of cranlosynostotic rabbits. To date, we have accomplished 10 back- and intercrosses with these animals and have produced a total of 71 live offspring; 10 animals exhibited complete nonsyndromic unilateral (plagiocephalic) or bilateral (brachycephalic) CS synostotic deformities at birth, and 19 animals exhibited partial CS synostosis that showed more than 75% growth retardation across the CS (well below the 95% confidence interval for normals). Results revealed that gestational time and litter size averages were consistent with those reported for the strain, although the average litter size decreased with increased inbreeding. By 1.5 weeks of age the completely synostosed animals already exhibited brachycephalic cranial vaults and midfacial hypoplasia compared to unaffected siblings. Initial pedigree analysis suggested an autosomal dominant inheritance pattern with incomplete penetrance and variable expressivity. The development of such a congenital rabbit model may prove useful In helping to understand the etiopathogenesis of this condition In human populations.

Download Full-text

Anterior endoscopic transcortical approach to a pineal region cavernous hemangioma

Neurosurgical Focus: Video ◽

10.3171/2021.4.focvid215 ◽

2021 ◽

Vol 5 (1) ◽

pp. V15

Author(s):

Jiuhong Li ◽

Jiaojiang He ◽

Lunxin Liu ◽

Liangxue Zhou

Keyword(s):

Cavernous Hemangioma ◽

Endoscopic Third Ventriculostomy ◽

Third Ventricle ◽

Pineal Region ◽

Postoperative Adhesion ◽

Third Ventriculostomy ◽

Back Side ◽

Coronal Suture ◽

The Third ◽

Transcortical Approach

A 57-year-old female presented with headache and dizziness for 3 months. Preoperative MRI revealed a lesion located at the pineal region and back side of the third ventricle, accompanied by hydrocephalus. The infratentorial supracerebellar approach may cause visuomotor, acousticomotor, and hearing disturbances. With the patient in a supine position, the authors used a frontal linear incision that was 3 cm anterior to the coronal suture and 2 cm away from the midline and an anterior endoscopic transcortical approach, which could achieve endoscopic third ventriculostomy, alleviating and preventing hydrocephalus due to postoperative adhesion and resection of the lesion at the same time. The pathological diagnosis was cavernous hemangioma. The video can be found here: https://stream.cadmore.media/r10.3171/2021.4.FOCVID215.

Download Full-text

Contrecoup extradural hematoma with coronal suture diastasis

Asian Journal of Neurosurgery ◽

10.4103/ajns.ajns_12_15 ◽

2017 ◽

Vol 12 (4) ◽

pp. 751

Author(s):

PratapChandra Nath ◽

SudhansuSekhar Mishra ◽

ManmathKumar Dhir ◽

RamaChandra Deo ◽

BikashRanjan Behera ◽

...

Keyword(s):

Coronal Suture ◽

Extradural Hematoma

Download Full-text

Association between Adenoid-Nasopharyngeal Ratio and Tympanogram Width in Adenoid Hypertrophy Patients

Asian Journal of Oncology ◽

10.1055/s-0041-1735332 ◽

2021 ◽

Author(s):

Muhammad Arif Sudianto Utama ◽

Widodo Ario Kentjono ◽

Haris Mayagung Ekorini

Keyword(s):

Risk Factor ◽

Pearson Correlation ◽

Radiographic Examination ◽

Adenoid Hypertrophy ◽

Significance Level ◽

Average Value ◽

Middle Ear Pressure ◽

Skull Radiography ◽

Pearson Correlation Test ◽

Male Patients

Abstract Introduction Adenoid hypertrophy is a change in adenoid size that can lead to obstruction the Eustachian tube and become a risk factor for otitis media effusion (OME) in children. Standard objective examination of adenoid hypertrophy uses adenoid-nasopharyngeal ratio (A-N ratio) based on correct lateral skull radiography. Adenoid hypertrophy is one of the factors causing OME in children. There is still much debate about the association between A-N ratio and tympanogram width (Tw). Determining the association of A-N ratio and Tw in adenoid hypertrophy patients. Methods Participants performed a true lateral radiographic examination using Fujioka method to determine A-N ratio, and Tw to determine middle-ear pressure. The distance between examination of A-N ratio and tympanogram examination was at maximum of ~1 week. The association between A-N ratio and Tw in patients with adenoid hypertrophy used the Pearson correlation test. This research employed significance level p < 0.05. Results Most participants were aged between 6 and 10 years (38.10%), male patients (57.14%), and the symptom most participants complained of was snoring during sleep (38.10%). Most participants had A-N ratio of 0.53 to 0.70 (61.90%) with an average of 0.60 ± 0.05. The average value of Tw measurement was 102.83 ± 50.03 daPa (r = 0.605; p < 0.001). Conclusion There is a significant association between A-N ratio base on true lateral radiographic examination and Tw in adenoid hypertrophy patients.

Download Full-text