Repair of Congenital Enlarged Parietal Foramina With Porous Polyethylene Implants.

Enlarged biparietal foramina is an autosomal dominant disorder that is caused by a failure of completion of ossification within the parietal bones. Enlarged parietal foramina measuring more than a few millimeters are uncommon. Even though spontaneous regression has been described, closure is rarely complete, and depending on the size of the resulting defect, an unprotected brain is a concern. There are few reports on the surgical management of persistent enlarged biparietal foramina. This is the first report describing our experience with a custom porous polyethylene implant.

Foramina parietalia permagna: evaluación clínico radiológica de una familia española con mutación no descrita en el gen ALX4 / Foramina parietalia permagna: Clinical radiological evaluation of a Spanish family with an undescribed mutation in the Alx4 gene

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Reconstruction of Congenital Cranial Defect Using Autologous Bone Graft in Aplasia Cutis Congenita.

Many methods have been devised to repair cranial defects. Here, we report the use of a simple technique for the repair of a congenital cranial defect associated with aplasia cutis congenita (ACC).A newborn baby at 39 weeks of gestation was consulted with a scalp and cranial defect at the vertex measuring 3 × 1.5 cm. A 3-D CT scan of the skull confirmed the presence of a cranial defect at the sagittal suture and a normal brain structure. On the 13 day of life, the newborn was taken to an operating room. An autologous bone graft was harvested from adjacent normal parietal bone and grafted into the debrided congenital cranial defect. The soft tissue defect was then covered by rotation flaps.The postoperative 3-D CT scan presented a well-positioned autologous bone graft. At 1 month postoperatively, the skull contour was normal and there was no palpable defect.We report a successful surgical outcome for a congenital cranial and soft tissue defect in ACC treated using an autologous bone graft and rotation flaps. Although conservative therapy may be an alternative option, we recommend appropriate surgical reconstruction in patients at risk of potentially fatal complications.

Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements.

OBJECTIVE: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanatophoric dysplasia in the first trimester of pregnancy. MATERIALS AND METHODS: Twenty-four reported cases of thanatophoric dysplasia diagnosed based on ultrasonographic results with molecular or radiographic diagnosis were included. All sonographic measurement records were extracted and reviewed, and the BPD/FL ratio was calculated for each gestational week. In addition, 10,293 routine fetal biometry measurements from 1395 cases of patients without skeletal dysplasia were compared. RESULTS: The BPD/FL ratio in the control group decreased to less than 3 prior to gestational week 13, and to less than 2 prior to week 18. Of the 27 BPD/FL ratios obtained from 24 cases of thanatophoric dysplasia, none was in the control range. CONCLUSION: The BPD/FL ratio may be used to detect lethal skeletal dysplasias such as thanatophoric dysplasia since the first trimester.

Mice lacking the conserved transcription factor Grainyhead-like 3 (Grhl3) display increased apposition of the frontal and parietal bones during embryonic development.

BACKGROUND: Increased apposition of the frontal and parietal bones of the skull during embryogenesis may be a risk factor for the subsequent development of premature skull fusion, or craniosynostosis. Human craniosynostosis is a prevalent, and often serious embryological and neonatal pathology. Other than known mutations in a small number of contributing genes, the aetiology of craniosynostosis is largely unknown. Therefore, the identification of novel genes which contribute to normal skull patterning, morphology and premature suture apposition is imperative, in order to fully understand the genetic regulation of cranial development. RESULTS: Using advanced imaging techniques and quantitative measurement, we show that genetic deletion of the highly-conserved transcription factor Grainyhead-like 3 (Grhl3) in mice (Grhl3 -/- ) leads to decreased skull size, aberrant skull morphology and premature apposition of the coronal sutures during embryogenesis. Furthermore, Grhl3 -/- mice also present with premature collagen deposition and osteoblast alignment at the sutures, and the physical interaction between the developing skull, and outermost covering of the brain (the dura mater), as well as the overlying dermis and subcutaneous tissue, appears compromised in embryos lacking Grhl3. Although Grhl3 -/- mice die at birth, we investigated skull morphology and size in adult animals lacking one Grhl3 allele (heterozygous; Grhl3 +/- ), which are viable and fertile. We found that these adult mice also present with a smaller cranial cavity, suggestive of post-natal haploinsufficiency in the context of cranial development. CONCLUSIONS: Our findings show that our Grhl3 mice present with increased apposition of the frontal and parietal bones, suggesting that Grhl3 may be involved in the developmental pathogenesis of craniosynostosis.

A novel ciliopathic skull defect arising from excess neural crest.

The skull is essential for protecting the brain from damage, and birth defects involving disorganization of skull bones are common. However, the developmental trajectories and molecular etiologies by which many craniofacial phenotypes arise remain poorly understood. Here, we report a novel skull defect in ciliopathic Fuz mutant mice in which only a single bone pair encases the forebrain, instead of the usual paired frontal and parietal bones. Through genetic lineage analysis, we show that this defect stems from a massive expansion of the neural crest-derived frontal bone. This expansion occurs at the expense of the mesodermally-derived parietal bones, which are either severely reduced or absent. A similar, though less severe, phenotype was observed in Gli3 mutant mice, consistent with a role for Gli3 in cilia-mediated signaling. Excess crest has also been shown to drive defective palate morphogenesis in ciliopathic mice, and that defect is ameliorated by reduction of Fgf8 gene dosage. Strikingly, skull defects in Fuz mutant mice are also rescued by loss of one allele of fgf8, suggesting a potential route to therapy. In sum, this work is significant for revealing a novel skull defect with a previously un-described developmental etiology and for suggesting a common developmental origin for skull and palate defects in ciliopathies.

[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].

Enlarged parietal foramina (EPF) are rare congenital skull defects. These round or oval defects are situated on each parietal bone approximately 1 cm from the midline. Most patients with EPF have a positive family history. The condition is inherited as an autosomal dominant trait with relatively high, but not full, penetrance. Mutation in either MSX2 or ALX4 genes is associated with enlarged parietal foramina. Case 1 is a boy who was noticed to have a large anterior fontanelle, large posterior fontanelle, and widely opened sagittal suture at 2 months. During development, the anterior fontanelle and sagittal suture closed at 3 years and the posterior fontanelle subsequently divided into two foramina with ossification of the midline bridge by 4 years. The foramina were about 2.5 x 2.5 cm in diameter at 8 years. Case 2 is the 34-year-old mother of Case 1. She showed similar bone defects in her cranium, again about 2.5 x 2.5 cm in diameter. Neither patient showed any neurological symptoms. Genetic analysis revealed a mutation in the ALX4 gene in both patients, and magnetic resonance imaging showed a persistent falcine sinus and a hypoplastic straight sinus. Further evaluation revealed that the mother of Case 2 also had a mutation in the ALX4 gene, but no enlarged parietal foramina. Although high penetrance of this condition has been reported, this family suggests incomplete penetrance of this disorder.

Os parietale partitum: Exploring the prevalence of this trait in four contemporary populations.

Os parietale partitum is a variable segmentation of the parietal bone. This manifests as a parietal division in the anteroposterior or superoinferior planes that is separated by an unusual suture and can be complete or incomplete. The existence of parietal divisions was observed and documented more than 260 years ago. The main objectives of this paper are to record the incidence of this rare trait in four modern populations with no previous records of it and provide a review of the literature. Four contemporary skeletal collections from Crete (Greece), Limassol (Cyprus), Coimbra (Portugal) and Salvador (Brazil) were assessed by the authors of this paper for non-metric cranial traits. Out of 711 skulls, only three cases of parietal division were found and all three originated from the Cypriot collection. These three cases were anatomically analyzed, showing that all three cases were adult females and showed unilateral expression of the trait. Two skulls showed superoinferior division, and the third case showed anteroposterior division. Numerous other cranial non-metric traits were found in these three skulls. Based on the cemetery archives, there seems to be no genetic link between the individuals bearing this trait. Further genetic analysis is suggested in order to verify this conclusion.

Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele.

An encephalocele is a protrusion of the brain and/or meninges through a defect in the skull. Based on the location of the skull defect they are classified into sincipital, basal, occipital or parietal varieties. Occurrence of more than one Encephalocele in a patient is very rare and very few cases of double encephalocele are reported. We report an interesting case where a parietal and an occipital encephalocele were present together. The patient was a 2 months boy who was brought to us with complaints of two swelling on the scalp since birth. Neuroimaging studies confirmed it to be a case of double encephalocele. The rarity of the findings prompted us to report this case. The presentation and management of the case along with and review of the relevant literature is presented.

Incomplete Reossification After Craniosynostosis Surgery.

A patient with unicoronal craniosynostosis was treated by an open cranial vault remodeling procedure at 11 months of age. A calvarial defect persists at the site of the sagittal suture at 7 years follow-up. This unexpected outcome led us to evaluate current literature on incidence and possible causes of incomplete reossification after craniosynostosis surgery.English literature was searched from 1982 to 2013. Variables of interest were incidence, diagnose, type of surgery, age at operation, possible causes for incomplete reossification, and duration and type of follow-up.Incidence in unselected cohorts ranged from 0.5% to 18.2%. Incomplete reossification has been reported in syndromical and nonsyndromical cases, after multiple types of surgery for any type of suture. Follow-up was done by palpation, radiology or both, for a period of 6 to 264 months.Higher age at operation and a dura tear are associated with an increased risk of incomplete reossification.Type and duration of follow-up is inhomogeneous and there is a wide variety in the terminology used for incomplete reossification.To improve international communication on this topic, more long-term studies, using a consistent type and length of follow-up and uniform terminology are needed.

Occlusal Relations in Patients With Scaphocephaly.

Scaphocephaly results from a premature fusion of the sagittal suture. Usually, cranial vault corrective surgery is performed during the first year of life. There is currently no scientific data regarding occlusion of scaphocephalic patients, or the potential effect of craniovault surgery on the occlusion. The aims were to describe occlusion in scaphocephalic patients and compare with a general pediatric population, and to compare the difference in occlusion of surgically versus unoperated treated scaphocephalic subgroup. A total of 91 scaphocephalic patients (71 boys aged between 2 and 11 y) seen at the Craniofacial Clinic of CHU Ste-Justine's formed the experimental group. All patients received an orthodontic assessment. Among them, 44 underwent craniovault surgery, whereas 47 remained unoperated. Thirty-eight (33 boys; 17 operated) had lateral cephalometric radiographies, some of them also had cephalometric growth follow-ups. Clinical values for dental classification and overjet indicate an increased prevalence of class II malocclusions in scaphocephalic patients. However, interestingly enough, cephalometric values indicative of skeletal class II malocclusions (ie, N-A perp HP, N-B perp HP, N-Pog perp HP, Wits, N-A-Pog) remained within normal limits. Some cephalometric values present statistically significant differences between operated and unoperated patients (ANS-PNS t2, P = 0.025; /1-FH t2, P = 0.028), but these are individual variations not related to scaphocephaly. Maxillary width of scaphocephalic children remains within normal limits. Scaphocephalic patients clinically presented more class II malocclusions compared with normal children. Radiographic values remain, however, within normal limits for both anteroposterior and transverse dimensions. Corrective craniovault surgery did not affect occlusion in these patients.

Effect of Presurgical Positioning on Skull Shape in Sagittal Suture Synostosis.

PURPOSE: The aim of the this study was to describe changes in head circumference (HC) and cephalic index (CI) in children with sagittal suture synostosis before surgery, by putting the child to bed in supine position lying on the back of the head. MATERIALS AND METHODS: A total of 83 patients were scheduled for minimally invasive spring-assisted correction at age 5 to 6 months. At presentation, parents were advised to place their child in bed lying on the back of their head. Preoperative evaluation involved measurement of HC and CI. Head circumference was measured at 2 time points in 33 patients and the CI at 2 time points in 19 patients. RESULTS: Head circumference (in SD) decreased from 1.69 to 1.37 and the CI increased from 66 to 69. CONCLUSION: Before surgery, positioning patients with sagittal suture synostosis on the back of the head is a feasible and effective way of changing head shape. More research is needed to evaluate the postsurgical effects on the long term.

Optimization of Cranio-Orbital Remodeling: Application of a Mathematical Model.

Cranio-orbital remodeling aims to correct the dysmorphic skull associated with craniosynostosis. Traditionally, the skull is reconstructed into a shape that is subjectively normal according to the surgeon's perception. We present a novel technique using a mathematical algorithm to define the optimal location for bony osteotomies and to objectively reshape the fronto-orbital bar into an ideal normal skull contour. Using pre-operative computed tomography images, the abnormal skull contour at the frontal-orbital region was obtained for infants planned to undergo cranio-orbital remodeling. The ideal skull shape was derived from an age- and sex-matched normative skull library. For each patient, the mathematical technique of dynamic programming (DP) was applied to compare the abnormal and ideal skull shapes. The DP algorithm identifies the optimal location of osteotomy sites and calculates the objective difference in surface area remaining between the normative and dysmorphic skull shape for each solution applied. By selecting the optimal solution with minimal objective difference, the surgeon is guided to reproducibly recreate the normal skull contour with defined osteotomies. The DP algorithm was applied in 13 cases of cranio-orbital remodeling. Five female and 8 male infants with a mean age of 11 months were treated for craniosynostosis classified as metopic (n = 7), unicoronal (n = 4), or bicoronal (n = 2). The mean OR time was 190.2  min (SD 33.6), mean estimated blood loss 244  cc (SD 147.6), and 10 infants required blood transfusions. Compared with a historical crania-orbital remodeling group treated without application of the algorithm, there was no significant difference in OR time, estimated blood loss, or transfusion rate. This novel technique enables the craniofacial surgeon to objectively reshape the fronto-orbital bar and reproducibly reconstruct a skull shape resembling that of normal infants.

New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis.

The authors present a new and unique pattern of sutural fusion "peace sign synostosis" (PSS) characterized by synostosis of the metopic, bicoronal, and sagittal sutures and associated with abnormalities of the TWIST1 gene known to be associated with Saethre-Chotzen syndrome (SCS). To do so, we performed a retrospective review of patients with bicoronal, metopic, and at least partial anterior sagittal synostoses at the Children's Hospital of Philadelphia and Seattle Children's Hospital. Patients' demographics, genetic analysis, perioperative and clinic notes were reviewed. Five patients were identified with PSS and abnormalities of TWIST1 consistent with SCS. One patient, with the longest follow-up of 7 years, underwent 5 intracranial procedures and required a ventriculoperitoneal (VP) shunt. The remaining 4 patients underwent posterior cranial vault distraction as the initial procedure, followed by anterior cranial vault remodeling. Two patients required a VP shunt. To conclude, synostosis of the metopic, bicoronal, and sagittal sutures (PSS) appears to be associated with SCS and produces a characteristic skull morphology that can be readily identified on physical examination. Early data suggest a high rate of reoperation, increased necessity for a VP shunt, and potential complications. Of note, this novel phenotype had not been previously observed at our respective institutions, reported in the literature, or observed in association with TWIST1 abnormalities as described in association with SCS.

Ophthalmic findings in children with nonsyndromic craniosynostosis treated by expansion cranioplasty.

The ocular and systemic abnormalities of nonsyndromic craniosynostosis are often considered to be less severe than those of syndromic craniosynostosis and are less well described. The purpose of this article was to describe the frequency and nature of ophthalmic abnormalities in children treated for nonsyndromic craniosynostosis by expansion cranioplasty. A retrospective review identified 88 consecutive children with nonsyndromic craniosynostosis who underwent expansion cranioplasty with distraction osteogenesis. Assessment of presence and type of strabismus, refractive error, and amblyopia before and 6 months after surgery was recorded. Children with a mean age of 24.4 months were treated for nonsyndromic craniosynostosis (27 with coronal and 61 with sagittal and/or lambdoid). One-fourth of the patients had a fixation preference. Significant refractive errors were found in 45 (51%) of the 88 patients: hyperopia in 27%, myopia in 5%, and astigmatism in 35%. Anisometropia was present in 20%. Of the 85 patients who completed orthoptic examination, 48 (56%) had strabismus: exodeviation in 26%, esodeviation in 14%, and vertical deviation in 5%. Fourteen patients (16%) had abnormal head posture. Significant refractive error and strabismus were more likely to occur in cases with coronal synostosis. The procedures used for cranial vault expansion improved the abnormal head posture but did not affect the refractive error or ocular misalignment. Of children with nonsyndromic craniosynostosis who need neurosurgical correction, more than half were found to have significant refractive error and strabismus. Our findings support the importance of ophthalmic evaluation in these children.

Craniofacial cephalometric morphology in 8-year-old children with operated sagittal synostosis.

OBJECTIVES: To evaluate cephalometrically craniofacial morphology in children with operated sagittal synostosis and to compare the findings with age- and sex-matched controls. SETTING AND SAMPLE POPULATION: Forty-two children (37 boys) with operated primary sagittal synostosis were compared retrospectively with age- and sex-matched controls from lateral cephalograms taken at a mean age of 8.1 (range 7.0-8.9) years. MATERIAL AND METHODS: The operations had been performed between the ages of 2 months and 6.3 years at three Finnish hospitals. The surgical methods included strip craniectomy, pi-plasty and cranial vault expansion. A paired Student's t-test and Pearson's correlation analysis were used in the statistical analyses. RESULTS: Children with operated sagittal synostosis had wide cranial base angles and their mandibles were retrognathic with labially inclined lower incisors relative to the controls. Age at craniosynostosis operation did not correlate with the cranial base angle. CONCLUSION: This study suggests that children with operated sagittal synostosis have minor distinctive morphological features in the cranial base and mandible. Orthodontic evaluation of craniofacial growth is recommended.

Perioperative complications associated with intracranial procedures in patients with nonsyndromic single-suture craniosynostosis.

Within the diagnosis "craniosynostosis," there is a subset of patients who present with isolated, nonsyndromic, single-suture involvement. This study evaluates perioperative complications in this specific subset of patients over 4 decades at a single institution. To do so, we performed a retrospective review on consecutive patients undergoing correction of single-suture synostosis from May 1977 to January 2013 at a tertiary pediatric craniofacial center. Demographic information, operative details, and perioperative course were collected. Complications were categorized as either major or minor. A χ(2) test and Fisher exact test were used to compare all categorical variables. Continuous variables were analyzed using Wilcoxon rank-sum and Kruskal-Wallis tests.Seven hundred forty-six patients underwent surgical correction of nonsyndromic craniosynostosis. Of these, there were 307 (41.2%) sagittal, 201 (26.9%) metopic, and 238 (31.9%) unicoronal. Thirty-four patients had complications (4.6%). Eight were considered major (1.1%), including one postoperative mortality in a patient with hypoplastic left-sided heart syndrome. Minor complications occurred in 26 patients (3.5%) and included subgaleal hematoma (n = 3), seroma (n = 4), and superficial wound infection (n = 5). Metopic and sagittal suture involvement was significantly associated with a higher complication rate (P = 0.04). A child with isolated single suture synostosis and any comorbidity had a significantly greater risk of any complication (P < 0.001; odds ratio, 3.8) and specifically an increased risk of major complication (P = 0.031; odds ratio, 6.0). Subclassification of patients by time period yielded no statistically significant changes in perioperative morbidity. To conclude, these data allow us to counsel families more accurately with regard to morbidity and mortality and may potentially serve as a benchmark for future quality improvement work.