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Cold Spring Harb Mol Case Stud 2022 Jun 22;8(4). Epub 2022 Jun 22.

College of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar.

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4. Read More

Cleft Palate Craniofac J 2022 Jun 16:10556656221107524. Epub 2022 Jun 16.

Centre for Defence Foundation Studies, 132053National Defence University of Malaysia, Kuala Lumpur, Malaysia.

Introduction: Apert, Crouzon, and Pfeiffer syndromes are common genetic syndromes related to syndromic craniosynostosis (SC), whereby it is a congenital defect that occurs when the cranial growth is distorted. Identifying cranial angles associated with these 3 syndromes may assist the surgical team to focus on a specific cranial part during the intervention planning, thus optimizing surgical outcomes and reducing potential morbidity.

Objective: The aim of this study is to identify the cranial angles, which are associated with Apert, Crouzon, and Pfeiffer syndromes. Read More

Elife 2022 Jun 15;11. Epub 2022 Jun 15.

Department of Anthropology, Pennsylvania State University, University Park, United States.

The cranial endo- and dermal skeletons, which comprise the vertebrate skull, evolved independently over 470 million years ago and form separately during embryogenesis. In mammals, much of the cartilaginous chondrocranium is transient, undergoing endochondral ossification or disappearing, so its role in skull morphogenesis is not well studied and it remains an enigmatic structure. We provide complete three-dimensional (3D) reconstructions of the laboratory mouse chondrocranium from embryonic day 13. Read More

Sci Rep 2022 Jun 11;12(1):9693. Epub 2022 Jun 11.

Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

Children with syndromic forms of craniosynostosis undergo a plethora of surgical interventions to resolve the clinical features caused by the premature fusion of cranial sutures. While surgical correction is reliable, the need for repeated rounds of invasive treatment puts a heavy burden on the child and their family. This study explores a non-surgical alternative using mechanical loading of the cranial joints to prevent or delay craniofacial phenotypes associated with Crouzon syndrome. Read More

Plast Reconstr Surg 2022 Jun 8. Epub 2022 Jun 8.

Department of Clinical Research, Medical City Dallas Hospital, Dallas, TX.

Background: Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive factors.

Methods: A retrospective chart review of all children with syndromic craniosynostosis treated at a single center. Read More

Dent Res J (Isfahan) 2022 27;19:38. Epub 2022 Apr 27.

Dental Implants Research Center, Dental Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran.

Crouzon syndrome is an autosomal dominant trait, leading to midface deficiency, undeveloped orbits, short nasal dorsum, and exophthalmos as the typical clinical features. Early correction of craniofacial problems can improve patients' quality of life, but many of these patients with Crouzon syndrome are seeking treatment in older ages when they are missed for multidisciplinary management and distraction technique in proper timing. Modified LeFort III osteotomy is one of the treatment options that can be used for proper resolution in adult patients. Read More

Front Genet 2022 16;13:871927. Epub 2022 May 16.

Department of Anthropology, The Pennsylvania State University, University Park, PA, United States.

The Crouzon syndrome mouse model carries a cysteine to tyrosine substitution at amino acid position 342 (Cys342Tyr; C342Y) in the fibroblast growth factor receptor 2 () gene equivalent to a mutation commonly associated with Crouzon and Pfeiffer syndromes in humans. The Fgfr2c C342Y mutation results in constitutive activation of the receptor and is associated with upregulation of osteogenic differentiation. Crouzon syndrome mice show premature closure of the coronal suture and other craniofacial anomalies including malocclusion of teeth, most likely due to abnormal craniofacial form. Read More

Taiwan J Obstet Gynecol 2022 May;61(3):514-516

Department of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, Taiwan; Department of Biomedical Engineering, National Yang Ming Chiao Tung University - Yang Ming Campus, Taiwan. Electronic address:

Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities.

Case Report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected. Due to the unknown severity of the craniofacial abnormalities and poor prognosis, the parents decided to terminate the fetus after through counselling. Read More

Cleft Palate Craniofac J 2022 May 20:10556656221100675. Epub 2022 May 20.

6595University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

Introduction: The squamosal suture (SQS) joins the temporal to the parietal bones bilaterally and is a poorly described site of craniosynostosis. SQS fusion is thought to occur as late as the fourth decade of life and beyond; however, we have incidentally noted its presence among our pediatric patients and hypothesize that it may occur earlier in life and more frequently than previously believed.

Methods: A retrospective review of imaging performed on pediatric patients was completed to identify patients with SQS synostosis. Read More

Childs Nerv Syst 2022 May 16. Epub 2022 May 16.

Department of Pediatric Neurosurgery, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK.

Introduction: Atlantoaxial rotatory fixation (AARF) is a rare condition that occurs most commonly in children. The torticollis caused by AARF usually presents as abnormal posturing of the head and neck, with rotation of the chin to the opposite side. AARF in children could occur due to congenital bony malformation, minor trauma, upper respiratory tract infections (Grisel's syndrome), postoperatively after head and neck (ENT) surgery, and unknown reasons. Read More

Acta Otorrinolaringol Esp (Engl Ed) 2022 May-Jun;73(3):196-198

Servicio de Otorrinolaringología, Hospital Universitario de Burgos, Burgos, Spain.

Zhonghua Kou Qiang Yi Xue Za Zhi 2022 May;57(5):503-508

Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.

To summarize the preliminary efficacy, perioperative management and complications of Le Fort Ⅲ osteotomy and midface distraction in patients with syndromic craniosynostosis by retrospective analysis, and to provide clinical experience for reference. From October 2017 to January 2020, 20 patients with syndromic craniosynostosis underwent Le Fort Ⅲ osteotomy and distraction in The Department of Oral and Maxillofacial Surgery of Peking University International Hospital, including 11 males and 9 females, were involved. The median age was 7 years (1. Read More

Congenit Anom (Kyoto) 2022 Apr 25. Epub 2022 Apr 25.

Division of Maxillofacial and Neck Reconstruction, Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Patients with Apert syndrome or Crouzon syndrome present with severe defects in oral-maxillofacial growth and development. In this study, we conducted a quantitative three-dimensional (3D) analysis of the palatal morphology of patients with Apert syndrome and Crouzon syndrome. Four patients with Apert syndrome (average age, 11. Read More

Chin Med J (Engl) 2022 Apr 20;135(8):971-976. Epub 2022 Apr 20.

Department of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100144, China.

Background: Hemifacial microsomia (HFM), which involves multiple sites with different levels of severity, is the second most common congenital craniofacial deformity after cleft lip and palate. However, three-dimensional (3D) measurements of mandibular deformities have not yet been studied in detail. The objective of this study is to investigate the method of 3D measurements of mandibular deformities in HFM patients. Read More

J Clin Lab Anal 2022 May 18;36(5):e24440. Epub 2022 Apr 18.

Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Background: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare multiple malformation syndrome characterized by malar and mandibular hypoplasia and congenital- or postnatal-onset microcephaly induced by haploinsufficiency of (elongation factor Tu GTP-binding domain-containing 2) EFTUD2.

Methods: We report the case of a 16-month-old boy with MFDM symptoms, including malar and mandibular hypoplasia, microcephaly, micrognathia, midline cleft palate, microtia, auditory canal atresia, severe sensorineural hearing loss, and developmental delay. Whole-exome sequencing (WES) analysis of the patient's family was performed to identify the genetic etiology responsible for this phenotype. Read More

Eur J Med Genet 2022 May 5;65(5):104478. Epub 2022 Apr 5.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, South Korea.

Mandibulofacial dysostosis with microcephaly (MFDM, OMIM#610536) is an extremely rare genetic syndrome characterised by microcephaly, external ear deformity, hearing loss, and distinct facial appearance, including zygomatic hypoplasia and micrognathia. Occasionally, various malformations in other internal organs, including oesophageal atresia or tracheoesophageal fistula, may lead to life-threatening situations. Haploinsufficiency of EFTUD2 is responsible for MFDM. Read More

J Craniofac Surg 2022 Mar-Apr 01;33(2):485-490

Department of Maxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College. Beijing, China.

Abstract: The treatment for severe hemifacial microsomia (HFM), especially type III case, is extremely difficult. Mandibular distraction osteogenesis (MDO) was rarely used as the primary choice in the treatment of severe type cases. The authors sought to observe the short-term therapeutic outcomes of patients with severe unilateral HFM who underwent MDO first. Read More

J Craniofac Surg 2022 Mar-Apr 01;33(2):e191-e194

Department of Oral and Maxillofacial Surgery, School of Dentistry, Dental Research Institute, Seoul National University, Seoul, South Korea.

Abstract: Crouzon syndrome, also known as craniofacial dysostosis, is an autosomal dominant inherited disease characterized by early cranial fusion and consequential craniofacial malformations. In patients with Crouzon syndrome, the growth of the midface is affected due to early fusion of the cranial base, which results in exophthalmos, ocular ptosis, midface deficiency, and maxillary retrognathism. Frontofacial advancement using Le Fort III osteotomy is the conventional method for treating patients with Crouzon syndrome. Read More

Oper Neurosurg (Hagerstown) 2022 Jul 5;23(1):e33-e41. Epub 2022 Apr 5.

Departments of Neurosurgery and Neurology, Santa Casa de Belo Horizonte, Belo Horizonte, Brazil.

Background: Craniosynostosis are cranial deformities resulting from the early closure of 1 or more sutures. Concomitant facial changes are complex and usually result from the involvement of multiple sutures, which may lead to restriction of cranial growth and brain expansion, ocular compression, and breathing difficulties. Surgical techniques to correct syndromic craniosynostosis have improved over time, considerably reducing the rate of complications of this procedure. Read More

Bone Rep 2022 Jun 26;16:101524. Epub 2022 Mar 26.

Service de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris; Faculté de Médecine, Université Paris Cité, Paris, France.

Objective: Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to activating () 1-3 mutations. Gain-of-function mutations are also responsible for various conditions referred to as osteochondrodysplasia (OCD), characterized by structural and functional abnormalities of growth plate cartilages. We hypothesized that patients with -related faciocraniosynostoses may present extra-cranial growth anomalies. Read More

J Plast Reconstr Aesthet Surg 2022 Jun 7;75(6):1781-1792. Epub 2022 Mar 7.

Department of Oral and Maxillofacial Surgery, The Dutch Craniofacial Center, Erasmus University Medical Center, Sophia's Children's Hospital Rotterdam, 's Gravendijkwal 230, Rotterdam 3015 CE, the Netherland.

Aim: This article provides a review of a decade of clinical research studies on clinical features, medical interventions, and surgical interventions for individuals with craniofacial microsomia (CFM). We also provide recommendations for future clinical research.

Method: A systematic search of literature was conducted in Embase and PubMed/MEDLINE Ovid. Read More

Pediatr Res 2022 Mar 29. Epub 2022 Mar 29.

Telethon Kids Institute, The University of Western Australia, Northern Entrance, 15 Hospital Avenue, Nedlands, 6009, WA, Australia.

Background: Accurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.

Methods: All births (1983-2005; n = 566,225) including CFA births (comprising orofacial clefts, craniosynostosis, craniofacial microsomia and mandibulofacial dysostosis) surviving to 5 years were identified from the birth, death, birth defects and midwives population data sets. Read More

J Craniomaxillofac Surg 2022 Apr 19;50(4):364-370. Epub 2022 Mar 19.

Department of Oral and Maxillofacial Surgery, Aarhus University Hospital, Aarhus, Denmark; Section of Orthodontics, Aarhus University Hospital, Aarhus, Denmark.

The aim of this case report is to describe the surgical technique and outcome using internal intraoral distraction devices in LeFort II distraction with zygomatic repositioning (LF2ZR). In Apert syndrome the midface is characterized by a complex hypoplasia, with the central part being more affected than the lateral orbito-zygomatic complex. In LF2ZR, the zygomas are repositioned and internally fixated, and the central midface is further advanced through a LeFort II distraction. Read More

BMJ Case Rep 2022 Mar 25;15(3). Epub 2022 Mar 25.

Department of Anaesthesiology and Critical Care, All India Institute of Medical Sciences-Jodhpur, Jodhpur, Rajasthan, India.

A female patient in her early 20s, with a known diagnosis of hemifacial microsomia (unilateral microtia and mandibular hypoplasia) accompanied with an unoperated cleft palate, came for an infected mandibular distraction plate removal. The anticipated difficult airway and lack of enough literature about what to expect in such a scenario, along with the psychological impact on the patient, made this case challenging and thought-provoking. Inability to perform the awake tracheal intubation because of the uncooperative patient, along with the difficult fibreoptic owing to narrowed nostrils, offered an extra set of challenges. Read More

Pediatr Neurosurg 2022 21;57(3):196-201. Epub 2022 Mar 21.

Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.

Introduction: Crouzon's syndrome and sinus pericranii (SP) are rare entities. Only few cases having both the features are reported. SP most commonly drains in relation to superior sagittal sinus and their communication to major posterior dural sinuses is rare. Read More

J Craniofac Surg 2022 Mar 14. Epub 2022 Mar 14.

French National Center for Rare Cranio Maxillo Facial Malformations (2008-2013) Department of Pediatric Neurosurgery, Lille University Hospital, Lille, France Plastic and Craniofacial Unit, Medical University of Plovdiv, Plovdiv, Bulgaria Department of Maxillofacial Surgery, Plastic Surgery Hospital of Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China Faculdade de Medicina da Universidade de São Paulo, Coordenador de Cirurgia Craniofacial HRAC-USP, Bauru, Brazil.

Abstract: Spatial resolution of computerized tomographic scanner has reached a level to which accurate anatomic measurements could be done in. Three-dimensional accurate measurements require a reliable referential system. In craniology landmarks are usually selected in the skull base. Read More

Plast Reconstr Surg 2022 05 14;149(5):954e-961e. Epub 2022 Mar 14.

From the Division of Plastic Surgery, Northwell Health; and Division of Plastic and Reconstructive Surgery, University of California, Los Angeles.

Background: The purpose of this study was to detail perioperative ophthalmologic evaluations to characterize functional ocular outcomes after facial bipartition surgery.

Methods: Patients with hypertelorbitism who underwent facial bipartition surgery were studied specifically for eye motility disorders by separating patients into rare craniofacial clefts (midline and paramedian) (n = 34) and craniofacial dysostosis (Apert, Crouzon, and Pfeiffer) (n = 74). Preoperative and postoperative (12 months) ophthalmologic examinations (with depth perception tests), computed tomography scans, and magnetic resonance imaging scans were analyzed. Read More

Plast Reconstr Surg 2022 05 14;149(5):930e-942e. Epub 2022 Mar 14.

From the Division of Plastic and Reconstructive Surgery, Yale School of Medicine; Division of Plastic and Reconstructive Surgery, Mayo Clinic Florida; and Department of Plastic Surgery, University of São Paulo.

Background: Oculoorbital disproportion in patients with craniosynostosis has similarities and dissimilarities between syndromic and nonsyndromic cases. The authors hypothesized that these two conditions have specific individual influences as they relate to development of the orbital and periorbital skeletons.

Methods: A total of 133 preoperative computed tomography scans (nonsyndromic bicoronal synostosis, n = 38; Apert syndrome bicoronal synostosis subtype, n = 33; Crouzon syndrome bicoronal synostosis subtype, n = 10; controls, n = 52) were included. Read More

Cleft Palate Craniofac J 2022 Mar 14:10556656221086459. Epub 2022 Mar 14.

Cirurgia Craniofacial HRAC-USP, Curso de Medicina, da Universidade de São Paulo, Bauru, Brazil.

Objective: To fix a gray zone left in Tessier's classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy.

Design: The material used for the research was a series of 26 clinical cases of patients with assessed cleft 6 and 44 cases found out of a literature review with enough data to be useful. The 70 cases were cross-examined by the authors. Read More

J Craniofac Surg 2022 Mar 10. Epub 2022 Mar 10.

Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas Department of Neurology, University of Campinas (UNICAMP), São Paulo, Brazil Department of Neurosciences, University of California San Diego, School of Medicine, La Jolla, CA.

Background: In this study, the authors present the outcomes of 4 patients with a severe form of Crouzon syndrome characterized by mutation of fibroblast growth factor receptor 2 (FGFR2) c.1040 C > G p.Ser347Cys or the pathogenic c. Read More