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Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown., Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model., Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.3 SEM1-DLX5-DLX6 locus, and their combination conferred over 7-fold increased risk of cNCS. The top variants were replicated in an independent cohort and showed pleiotropic effects on brain and facial morphology and bone mineral density. Fine mapping of 7q21.3 identified a craniofacial transcriptional enhancer (eDlx36) within the linkage region of the top variant (rs4727341; odds ratio [95% confidence interval], 0.48[0.39-0.59]; P = 1.2E-12) that was located in SEM1 intron and enriched in 4 rare risk variants. In zebrafish, the activity of the transfected human eDlx36 enhancer was observed in the frontonasal prominence and calvaria during skull development and was reduced when the 4 rare risk variants were introduced into the sequence., Conclusion: Our findings support a polygenic nature of cNCS risk and functional role of craniofacial enhancers in cNCS susceptibility with potential broader implications for bone health., Competing Interests: Conflict of Interest The authors declare no competing interests in relation to the work described.

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.

Learning Objectives: After studying this article, the participant should be able to: 1. Describe the evolution of three-dimensional computer-aided reconstruction and its current applications in craniofacial surgery. 2. Recapitulate virtual surgical planning, or computer-assisted surgical simulation, workflow in craniofacial surgery. 3. Summarize the principles of computer-aided design techniques, such as mirror-imaging and postoperative verification of results. 4. Report the capabilities of computer-aided manufacturing, such as rapid prototyping of three-dimensional models and patient-specific custom implants. 5. Evaluate the advantages and disadvantages of using three-dimensional technology in craniofacial surgery. 6. Critique evidence on advanced three-dimensional technology in craniofacial surgery and identify opportunities for future investigation., Summary: Increasingly used in craniofacial surgery, virtual surgical planning is applied to analyze and simulate surgical interventions. Computer-aided design and manufacturing generates models, cutting guides, and custom implants for use in craniofacial surgery. Three-dimensional computer-aided reconstruction may improve results, increase safety, enhance efficiency, augment surgical education, and aid surgeons' ability to execute complex craniofacial operations. Subtopics include image analysis, surgical planning, virtual simulation, custom guides, model or implant generation, and verification of results. Clinical settings for the use of modern three-dimensional technologies include acquired and congenital conditions in both the acute and the elective settings. The aim of these techniques is to achieve superior functional and aesthetic outcomes compared to conventional surgery. Surgeons should understand this evolving technology, its indications, limitations, and future direction to use it optimally for patient care. This article summarizes advanced three-dimensional techniques in craniofacial surgery with cases highlighting clinical concepts., (Copyright © 2021 by the American Society of Plastic Surgeons.)

An 11-year-old male presented with right proptosis, bulbar conjunctivitis, and diplopia. Computerized tomography (CT) and magnetic resonance imaging revealed an enhancing mass involving the superio-medial orbit, ethmoids, frontal sinus, and anterior cranial fossa with skull base destruction. Diffuse large B-cell lymphoma was diagnosed via CT-guided biopsy. As a component of multidisciplinary care, the patient underwent frontal sinus cranialization, with orbital and skull base reconstruction. Trauma reconstructive principles guided recreation of orbital, frontal sinus, and anterior skull base anatomy. This rare primary location is undescribed in the pediatric literature.

Total ear reconstruction has been approached by several techniques involving autologous graft, prosthetic implant, and alloplastic implant options. Recent studies have shown the superiority of porous polyethylene (Medpor, Porex Surgical) reconstruction over autologous reconstruction based on improved aesthetic results, earlier age of intervention, shorter surgery times, fewer number of required procedures, and a simpler postoperative recovery process. A durable and permanent option for total ear reconstruction, like Medpor, can help alleviate the cosmetic concerns that patients with auricular deformities may be burdened with on a daily basis. In this article, the authors discuss the advantages of Medpor-based ear reconstruction and discuss recent advances in the surgical techniques involved, such as harvesting a temporoparietal fascia flap and full-thickness skin graft to adequately cover the Medpor framework and decrease extrusion rates.

OBJECTIVE This study examines a series of patients with hypophosphatemic rickets and craniosynostosis to characterize the clinical course and associated craniofacial anomalies. METHODS A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers. Parameters examined included sex, age at diagnosis of head shape anomaly, affected sutures, etiology of rickets, presenting symptoms, number and type of surgical interventions, and associated diagnoses. A review of the literature was performed to optimize treatment recommendations. RESULTS Ten patients were identified (8 males, 2 females). Age at presentation ranged from 1 to 9 years. The most commonly affected suture was the sagittal (6/10 patients). Etiologies included antacid-induced rickets, autosomal dominant hypophosphatemic rickets, and X-linked hypophosphatemic (XLH) rickets. Nine patients had undergone at least 1 cranial vault remodeling (CVR) surgery. Three patients underwent subsequent surgeries in later years. Four patients underwent formal intracranial pressure (ICP) monitoring, 3 of which revealed elevated ICP. Three patients were diagnosed with a Chiari Type I malformation. CONCLUSIONS Secondary craniosynostosis develops postnatally due to metabolic or mechanical factors. The most common metabolic cause is hypophosphatemic rickets, which has a variety of etiologies. Head shape changes occur later and with a more heterogeneous presentation compared with that of primary craniosynostosis. CVR may be required to prevent or relieve elevated ICP and abnormalities of the cranial vault. Children with hypophosphatemic rickets who develop head shape abnormalities should be promptly referred to a craniofacial specialist.

Background: Military pediatric plastic surgery humanitarian missions in the Western Hemisphere have been initiated and developed since the early 1990 s using the Medical Readiness Education and Training Exercise (MEDRETE) concept. Despite its initial training mission status, the MEDRETE has developed into the most common and advanced low level medical mission platform currently in use. The objective of this study is to report cleft- and craniofacial-related patient outcomes after initiation and evolution of a standardized treatment protocol highlighting lessons learned which apply to civilian plastic surgery missions., Methods: A review of the MEDRETE database for pediatric plastic surgery/cleft and craniofacial missions to the Dominican Republic from 2005 to 2009 was performed. A multidisciplinary team including a craniofacial surgeon evaluated all patients with a cleft/craniofacial and/or pediatric plastic condition. A standardized mission time line included predeployment site survey and predeployment checklist, operational brief, and postdeployment after action report. Deployment data collection, remote patient follow-up, and coordination with larger land/amphibious military operations was used to increase patient follow-up data. Data collected included sex, age, diagnosis, date and type of procedure, surgical outcomes including speech scores, surgical morbidity, and mortality., Results: Five hundred ninety-four patients with cleft/craniofacial abnormalities were screened by a multidisciplinary team including craniofacial surgeons over 4 years. Two hundred twenty-three patients underwent 330 surgical procedures (cleft lip, 53; cleft palate, 73; revision cleft lip/nose, 73; rhinoplasty, 15; speech surgery, 24; orthognathic/distraction, 21; general pediatric plastic surgery, 58; fistula repair, 12). Average follow-up was 30 months (range, 1-60). The complication rate was 6% (n = 13) (palate fistula, lip revision, dental/alveolar loss, revision speech surgery rate). The average pre-surgical (Pittsburgh Weighted Speech Score) speech score was 12 (range, 6-24). The average postsurgical speech score was 6 (range, 0-21). Average hospital stay was 3 days for cleft surgery. There were no major complications or mortality, 1 reoperation for bleeding or infection, and 12 patients required secondary operations for palatal fistula, unsatisfactory aesthetic result, malocclusion, or velopharygeal dysfunction., Conclusions: Military pediatric plastic surgery humanitarian missions can be executed with similar home institution results after the initiation and evolution of a standardized approach to humanitarian missions. The incorporation of a dedicated logistics support unit, a dedicated operational specialist (senior noncommissioned officer), a speech language pathologist, remote internet follow up, an liaison officer (host nation liaison physician participation), host nation surgical resident participation, and support from the embassy, Military Advisory Attachment Group, and United States Aid and International Development facilitated patient accurate patient evaluation and posttreatment follow-up. Movement of the mission site from a remote more austere environment to a centralized better equipped facility with host nation support to transport patients to the site facilitated improved patient safety and outcomes despite increasing the complexity of surgery performed.

The facial region is infrequently affected by necrotizing infections. Orbital necrotizing infections are even rarer, seen following trauma, local skin infection, and sinusitis. The authors report a unique case of orbital necrotizing fasciitis and osteomyelitis resulting from Arcanobacterium Haemolyticum ethmoid sinusitis. No prior occurrences of Arcanobacterial species orbital necrotizing fasciitis/osteomyelitis have been reported.A 16-year-old boy presented to the ER with a 3-day history of fever, chills, headache, and sinus pressure. CT scan revealed soft tissue swelling of the right orbit, forehead, and ethmoid sinusitis. Within 24 hours of admission, he suffered rapidly progressive swelling and erythema of the right orbit and forehead with diminished visual acuity, despite broad-spectrum antibiotics. Orbital exploration revealed frankly necrotic fascia and periosteum along the superior aspect. Lateral canthotomy, cantholysis, decompression of the optic nerve, and soft tissue debridement with bone biopsy was performed. Operative specimens isolated Arcanobacterium Haemolyticum. Pathologic examination revealed right orbital osteomyelitis.

The rapid growth of the brain in the first few years of life drives the expansion of the cranial vault. This expansion occurs primarily at the cranial sutures; premature fusion of these results in growth restriction perpendicular to the axis of the suture. The result of this is physical deformation of the cranial and facial skeleton, as well as the distortion of the underling brain and its physiology. These patients can present with symptoms of raised intracranial pressure, neurodevelopmental delay, as well as the morphological features of craniosynostosis. Acquired conditions such as the slit ventricle syndrome may also result in cephalocranial disproportion with these clinical features. Traditional vault remodeling surgery is able to correct the physical abnormalities as well as correcting cephalocranial disproportion. Its limitations include the degree of scalp expansion achievable as well as resulting defects in the bone. The use of distraction osteogenesis of the cranial vault permits a controlled expansion in a predetermined vector in a gradual manner. When used in the calvarium, this combines the benefits of tissue expansion on the scalp, as well as stimulating the production of new bone, reducing the defects resulting from expansion. In this review, the authors describe some of the surgical considerations important to the use of this technique. This includes the relevant anatomy and technical aspects illustrated with the use of clinical cases. Finally, they present a summary of their experience and discuss the complications associated with cranial vault distraction osteogenesis.

The orthodontist plays a key role in the selection of the optimal treatment for patients followed by a craniofacial team. For patients with cleft lip and palate, the need for multidisciplinary treatment planning and sequentially staged treatment is essential for successful patient outcomes. The technique of Le Fort I distraction osteogenesis of the maxilla using an internal device is potentially a predictable, stable, and convenient option for the correction of severe maxillary hypoplasia. It is an alternative option for treatment of maxillary hypoplasia in growing patients. In this article, the authors describe the orthodontist's approach to the management of cleft patients with severe maxillary deficiency with the use of an internal distraction device. The information is presented with a focus on the clinical aspects of treatment, using case illustrations and appropriate literature.

Treatment of maxillary hypoplasia has traditionally involved conventional Le Fort I osteotomies and advancement. Advancements of greater than 10 mm risk significant relapse. This risk is greater in the cleft lip and palate population, whose anatomy and soft tissue scarring from prior procedures contributes to instability of conventional maxillary advancement. Le Fort I advancement with distraction osteogenesis has emerged as viable, stable treatment modality correction of severe maxillary hypoplasia in cleft, syndromic, and noncleft patients. In this article, the authors provide a review of current data and recommendations concerning Le Fort I advancement with distraction osteogenesis. In addition, they outline their technique for treating severe maxillary hypoplasia with distraction osteogenesis using internal devices.

Background: Slit ventricle syndrome (SVS) is a known late complication of shunting procedures. Some patients develop cephalocranial disproportion (CCD) that will require surgical treatment to increase craniocerebral compliance., Methods: We performed cranial vault distraction osteogenesis to treat 2 teenage patients who presented with SVS, increased intracranial pressure and CCD. Bilateral temporo-parieto-occipital craniotomies were performed., Results: Both patients successfully completed distraction and consolidated without the need for bone grafting. Postoperatively, both patients showed an increase in intracranial and intraventricular volume, as well as decreased shunt revisions. One patient had improvement of her headaches, while the other continues to have chronic headaches., Conclusion: Distraction osteogenesis is an option to expand the cranial vault in older children with SVS and CCD, in which the traditional cranial vault expansion would be a challenge and may or may not provide adequate expansion.

Resorbable plating systems have been adapted into routine use for craniofacial reconstruction in children. After implantation in some patients, the area around the plates can develop palpable and visible fibrous capsules, with underlying bone resorption and a significant foreign-body giant cell reaction. The reaction is usually self-limited. We report a case in which Langerhans cell histiocytosis was resected, and then recurred at the sites of resorbing plate and screw placement in association with a foreign-body giant cell reaction., (© 2014 S. Karger AG, Basel.)

Attempts at reducing exposure to allogeneic transfusions, using blood conservation techniques such as controlled hypotension and normovolemic hemodilution, have met with mixed results and are not always practical in small infants. Recombinant human erythropoietin (RHE), a hormone that stimulates RBC production, increases the hematocrit when administered to infants. A retrospective chart review of all patients undergoing fronto-orbital advancement for craniosynostosis by the same plastic surgeon between January 2002 and December 2002 was conducted. A subgroup of patients (10/19) received RHE as a blood-conservation strategy. Transfusion requirements were lower in the RHE group (5/10) versus the control group (9/9). Total volume of blood products transfused was statistically lower in the RHE group (154 mL RHE group versus 421 mL control) (P < 0.03). RHE combined with blood-conservation techniques was associated with a decreased need for blood transfusion, thus exposing the patient to fewer risks associated with allogeneic transfusion.

Hemangiomas represent one of the most common childhood neoplasms. They are often managed conservatively, requiring numerous years for spontaneous involution. No effective medical treatment has been reported for children with large, deforming hemangiomas of the parotid gland and overlying cheek. The authors retrospectively studied 17 children who underwent surgical resection of parotid hemangiomas at Childrens Hospital Los Angeles from 1997 to 2003. All 17 patients had improvements in facial asymmetry and deformity. There were no major complications. Minor complications included hematoma (11.8 percent), transient facial nerve palsy (11.8 percent), and blood transfusion (5.9 percent). All operations were performed on an outpatient basis. Surgical resection of parotid hemangiomas provides an aesthetic benefit to young children with low associated morbidity. Early resection by an experienced surgeon should be considered as a treatment option for these disfiguring lesions.

The use of medial osteotomies as an adjunct in rhinoplasty represents an ongoing challenge to the surgeon. Despite previous descriptions, it remains difficult to obtain a consistent, aesthetically pleasing result. Nasal skin is thin and unforgiving in the region of the medial osteotomy, thus irregularities may be created. Also, bony collapse is possible with overmobilization of the osteotomy segment. The present study was undertaken to understand nasal bone thickness and osteotomy fracture tendencies to provide consistent and aesthetically pleasing results when performing medial osteotomy. Seventeen cadavers with known demographics were studied. Left heminoses were skeletonized to bone; 1-mm drill holes in a 3 x 3-mm grid were made from the midline up to the laterocephalic extent of the bony vault. On right hemi- noses, medial osteotomies were performed at either 0 or 15 degrees from the midline and combined with "low-to-low" lateral osteotomies with digital greenstick infracture. Soft tissue was removed to examine fracture patterns and narrowing. A transition in bone thickness was found both with increasing thickness from caudal to cephalic and lateral to medial, leading to a natural cleavage plane, evident in all 17 cadavers. Zero-degree osteotomies caused contour irregularities with rocker-like deformities in seven of eight noses. Fifteen-degree medial osteotomies produced narrowing without contour deformities in all cases (nine of nine), which was significantly different from the result with 0-degree osteotomies (p = 0.0004). Sharp, thin osteotomes were preferred to perform the osteotomies. The order of the osteotomies (medial, lateral) did not affect resultant narrowing or cause contour deformity. Fifteen-degree medial osteotomies followed the natural cleavage plane formed by bone thickness transition, whereas 0-degree osteotomies cut into much thicker bone, resulting in thick spicules of bone attached to the mobilized segment. When 15-degree medial osteotomies were combined with low-to-low lateral osteotomies with digital greenstick infracture, the resultant narrowing was sufficient and the greenstick reliable and controlled, without any evidence of contour deformity. The smooth contour is readily apparent clinically.

Precise lateral nasal osteotomies combined with digital greenstick infracture can be a key feature in determining the success of a rhinoplasty procedure. This procedure may be difficult to perform consistently because the surgeon relies on tactile cues transmitted through intact soft tissue. In 17 cadavers with known demographics, bone fracture patterns after lateral osteotomy and digital greenstick infracture were studied and compared with measured lateral bone pyramid thicknesses. One side of each nose served to measure lateral wall thicknesses by drilling holes in a grid pattern and taking depth gauge measurements. Contralaterally, lateral osteotomy with digital greenstick infractures were performed. Consistent patterns of bone thickness were found. Bone was thinner near the pyriform aperture with a high fragmentation rate after osteotomy. Cephalocaudal thinning of the lateral bony pyramid near the medial canthus corresponded to the zone of greenstick fracture in 14 of 14 noses. Two major fracture pattern groups were noted. When lateral osteotomy was taken to the level of the medial canthus vertically, the greenstick fracture was consistent and predictable based on the transition in bone thickness from the radix area down across the lateral bony vault in untraumatized white cadavers.