Search Our Scientific Publications & Authors

J Orthod 2021 Jun 8:14653125211019412. Epub 2021 Jun 8.

Department of Orthodontics and Dentofacial Orthopedics, Maulana Azad Institute of Dental Sciences, New Delhi, India.

Crouzon syndrome is one of the most common craniosynostosis facial syndromes caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Less commonly, there is a mutation of the FGFR3 gene which results in Crouzon syndrome syndrome with acanthosis nigricans. It involves the premature fusion of sutures of the cranial vault, base, orbital and maxillary region. Read More

Body Image 2021 Jun 1;38:334-345. Epub 2021 Jun 1.

Centre for Rare Disorders, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Postboks 4950 Nydalen, 0424, Oslo, Norway. Electronic address:

The purpose of this study was to better understand how individuals with craniofacial conditions experience living with visible differences and make sense of appearance-altering surgery. We conducted semi-structured qualitative interviews with 11 adults with Goldenhar or Crouzon syndrome. Interviews were analysed using a hermeneutic-phenomenological approach to thematic analysis. Read More

Clin Plast Surg 2021 Jul 11;48(3):521-529. Epub 2021 May 11.

Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Av Adolpho Lutz, 100, Caixa Postal: 6028, Campinas, São Paulo 13084-880, Brazil.

Monobloc and facial bipartition combined with distraction osteogenesis (MFBDO) has gained popularity over the past several years as a treatment of syndromic craniosynostosis, in part because this surgical technique effectively removes many stigmatic clinical features associated with the syndromic face. The objective of this study is to detail the surgical planning used to achieve medialization of the orbits and describe the authors' experience using MFBDO to destigmatize the syndromic face. By using MFBDO, hypertelorism, vertical orbital dystopia, and downslanting of the palpebral fissure were surgically corrected in all patients, thereby destigmatizing the syndromic face. Read More

Clin Plast Surg 2021 Jul 8;48(3):497-506. Epub 2021 May 8.

Unité fonctionnelle de chirurgie craniofaciale, Service de Neurochirurgie Pédiatrique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence Maladies Rares CRANIOST, Filière Maladies Rares TeteCou, Université Paris Descartes, ERN Cranio, 149 rue de Sèvres, 75015, Paris, France; Clinique Marcel Sembat, Ramsay Générale de Santé, 105 boulevard Victor Hugo, 92100 Boulogne, France. Electronic address:

The introduction of distraction osteogenesis to frontofacial monobloc advancement has increased the safety of the procedure. One hundred forty-seven patients with syndromic craniosynostosis underwent frontofacial monobloc advancement using 4 internal distractors. Twenty-five were aged 18 months or less. Read More

BMJ Case Rep 2021 May 27;14(5). Epub 2021 May 27.

Orthodontic Department, Dorset County Hospital NHS Foundation Trust, Dorchester, Dorset, UK.

The management of patients with Treacher Collins Syndrome (TCS) is complex and involves many different specialists within multidisciplinary teams (MDT). The treatment pathway extends from birth well into adulthood and is associated with a heavy burden of care. Due to the extensive nature of the interaction with these patients, MDT members have opportunities to provide enhanced patient-centred care and support. Read More

Nat Commun 2021 05 21;12(1):3014. Epub 2021 May 21.

Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied members. We discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Streiff syndrome (HSS). We used genome editing to generate isogenic iPSC lines and model HSS in relevant cell types. Read More

Am J Med Genet C Semin Med Genet 2021 06 13;187(2):269-277. Epub 2021 May 13.

Archeological Museum Julio César Cubillos, Archeodiversity Research, Universidad del Valle, Cali, Colombia.

The Moche were a pre-Hispanic, pre-Incan people who inhabited northwestern Peru from 50 to 850 AD and left behind a large body of ceramic artwork. We present 26 pieces from 5 museums, which seem to show individuals with malformations, minor anomalies, and possible genetic syndromes. Possible diagnoses include cleft lip and palate, ocular anomalies such as hypertelorism and orbital dystopia, oligo- and polydactyly, conjoined twinning, clubfoot, Down syndrome, Crouzon syndrome, and Seckel syndrome. Read More

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2021 Apr;43(2):293-299

Department of Orthopaedics,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.

The human homologue of mouse progressive ankylosis protein(ANKH)is an inorganic pyrophosphate transport regulator,which regulates tissue mineralization by controlling the level of inorganic pyrophosphate.It plays an important role in the pathogenesis and development of bone and joint diseases,such as ankylosing spondylitis,craniometaphyseal dysplasia,and articular cartilage calcification.This review summarizes the progress of research on ANKH and the above-mentioned diseases. Read More

J Craniomaxillofac Surg 2021 Apr 28. Epub 2021 Apr 28.

Craniofacial Center, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA. Electronic address:

The aim of the study was to determine if the additional surgical complexity of Lefort II distraction with zygomatic repositioning (LF2ZR) results in increased complications compared to Lefort III distraction (LF3). A retrospective review was performed of all LF3 and LF2ZR advancements performed by the senior author over 15 years. Demographic, operative, postoperative, and cephalometric data were collected from initial procedure through greater than 1 year postoperatively. Read More

J Craniomaxillofac Surg 2021 Jun 20;49(6):443-448. Epub 2021 Apr 20.

Department of Maxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Science, Peking Union Medical College, China. Electronic address:

The aim of this study was to explore how mandibular distraction osteogenesis influences morphological changes in the oropharynx and laryngopharynx. This was a retrospective study of airway parameter measurements in CFM patients undergoing mandibular distraction osteogenesis treatment. The indication for surgical treatment was the obvious facial asymmetry. Read More

Childs Nerv Syst 2021 Apr 27. Epub 2021 Apr 27.

Department of Plastic Surgery, Lille University Hospital, Lille, France.

Introduction: With the increasing possibilities of surgical treatment addressing the complex spectrum of defects in Crouzon syndrome (CS), it is of utmost importance to obtain accurate assessment of the malformation. Evaluating the volume of the posterior fossa is of great importance since many authors, considering that its volume is always decreased, favor posterior fossa enlargement as a first step in the treatment of CS.

Material And Methods: We studied CT scans of children with CS, which were vestibular-oriented (VO) in order to conform with physiological landmarks, and we measured intracranial volume by manual segmentation; these abnormal CT scans were superposed with VO 3D-CT scanners of age-matched controls. Read More

Childs Nerv Syst 2021 Jun 18;37(6):2001-2009. Epub 2021 Apr 18.

Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Av. Adolpho Lutz, 100, Caixa Postal 6028, Campinas, São Paulo, 13084-880, Brazil.

Purpose: The most commonly occurring syndromic craniosynostoses are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. There is insufficient data regarding postoperative syndrome-related outcomes following the posterior vault distraction osteogenesis (PVDO) procedure, as well as data addressing whether or not additional procedures will be subsequently necessary to comprehensively treat children who undergo PVDO. Thus, the objective of this study is to describe and compare syndrome-related potential complications and outcomes associated with the PVDO procedure. Read More

Am J Orthod Dentofacial Orthop 2021 Jun 8;159(6):836-851. Epub 2021 Apr 8.

Department of Orthodontics, Mahidol University, Bangkok, Thailand. Electronic address:

Interdisciplinary treatment for patients with Treacher Collins syndrome is challenging because of the rarity of the condition and the wide variety of phenotypic expression. A 23-year-old male was diagnosed with Treacher Collins syndrome with a history of severe obstructive sleep apnea. He presented with a Pruzansky-Kaban classification grade I mandible, skeletal type II pattern with a hyperdivergent mandibular plane, severe convex profile, and Class II malocclusion with a missing mandibular incisor. Read More

Mymensingh Med J 2021 Apr;30(2):555-558

Dr Aziza Jahan, Resident, MD Paediatrics, Mymensingh Medical College (MMC), Mymensingh, Bangladesh; E-mail:

Treacher collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant inherited disorder with variable expressivity. It affects mainly craniofacial structure that derives from 1st and 2nd branchial arches approximately between the 20th day and 12th week of intrauterine life. This syndrome has different clinical types. Read More

Int J Mol Sci 2021 Mar 1;22(5). Epub 2021 Mar 1.

Department of Biochemistry and Molecular Biology, Centre of Postgraduate Medical Education, 01-813 Warsaw, Poland.

The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response. The proper functioning of these organelles is ensured by specific proteins that maintain nucleolar structure and mediate key nucleolar activities. Among all nucleolar proteins, treacle encoded by gene emerges as one of the most crucial regulators of cellular processes. Read More

Neoreviews 2021 Apr;22(4):e250-e257

Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Mattel Children's Hospital and the David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.

Craniosynostosis is the premature fusion of 1 or more sutures that normally separate the bony plates of an infant's skull and occurs in about 1 in 2,000 to 2,500 live births. Primary or congenital craniosynostoses represent the majority of cases and consist of single-suture and multisuture synostoses. Multisuture synostoses are typically associated with distinct craniofacial syndromes, including Muenke syndrome, Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome, and are thus categorized under syndromic craniosynostoses. Read More

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2021 Apr;35(4):371-374;379

Children with microtia are often associated with maxillofacial dysostosis, such as Treacher Collins syndrome, Goldenhar syndrome, and Nager syndrome, and they are prone to suffer from obstructive sleep apnea（OSA）. Obstruction widely occurred in the upper airway is the main mechanism of OSA in these children, and dysplasia of the pharynx and neurodevelopmental abnormalities may also participate. Early diagnosis requires symptom screening and polysomnography. Read More

Neurosurg Focus 2021 04;50(4):E12

Departments of1Plastic and Reconstructive and Hand Surgery and.

The aim of this study was to report on a single center's experience with spring-assisted cranial vault expansion (SAE) in patients with Crouzon syndrome and sagittal suture synostosis. Strip craniotomy with SAE has resulted in successful outcomes with low complication and revision rates in patients with isolated scaphocephaly. However, recent experience suggests that outcomes in patients with Crouzon syndrome and sagittal synostosis (SS) who undergo SAE are less favorable compared with the outcomes of those who undergo frontobiparietal (FBP) expansion. Read More

Neurosurg Focus 2021 04;50(4):E11

1Department of Neurosurgery, Vanderbilt University Medical Center, Nashville, Tennessee.

Objective: Hydrocephalus may be seen in patients with multisuture craniosynostosis and, less commonly, single-suture craniosynostosis. The optimal treatment for hydrocephalus in this population is unknown. In this study, the authors aimed to evaluate the success rate of ventriculoperitoneal shunt (VPS) treatment and endoscopic third ventriculostomy (ETV) both with and without choroid plexus cauterization (CPC) in patients with craniosynostosis. Read More

Mol Syndromol 2021 Mar 15;12(1):41-45. Epub 2020 Dec 15.

INGEMM-Institute of Medical and Molecular Genetics, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain.

Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in the () gene located at chromosome 5q12.1. It is phenotypically characterized by frontonasal malformation with hypertelorism, telecanthus, nasal clefting or bifid nasal tip, wide fontanels and sutures, brachycephaly, and cleft palate. Read More

Int J Oral Maxillofac Surg 2021 Mar 19. Epub 2021 Mar 19.

The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia's Children's Hospital, Rotterdam, the Netherlands; The Craniofacial Unit, Great Ormond Street Hospital, London, UK. Electronic address:

Treacher Collins syndrome (TCS) is a congenital malformation of the craniofacial structures derived from the first and second pharyngeal arches. The craniofacial deformities are well described in the literature. However, little is known about whether there are associated extracraniofacial anomalies. Read More

Medicine (Baltimore) 2021 Mar;100(10):e24991

Department of Ophthalmology, Hebei Eye Hospital, Xingtai, Hebei, China.

Rationale: Crouzon syndrome is an autosomal dominant genetic disorder caused by mutations in fibroblast growth factor receptor 2 (FGFR2) and one of the most common types of craniosynostosis. Here we report the detection of FGFR2 mutation and its related clinical findings in 2 patients with Crouzon syndrome from a Chinese family.

Patient Concerns: We report a case of a 28-year-old male patient presented with the chief complaint of gradually blurring of his eyes over the last 6 months before visiting our clinics. Read More

Spec Care Dentist 2021 Mar 12. Epub 2021 Mar 12.

Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.

Aim: To report the surgical management of bilateral mandibular coronoid processes hyperplasia and mandibular retrognathism associated with trismus and convex facial profile in an individual diagnosed with Nager syndrome (NS).

Case Report: A 21 years old female was referred to the Department of Oral and Maxillofacial Surgery, presenting limited mouth opening and an unpleasant convex facial profile. The tomography exhibited hyperplasia of mandibular coronoid processes with no evidence of intracapsular ankylosis of the temporomandibular joint. Read More

J Contemp Dent Pract 2020 Oct 1;21(10):1189-1195. Epub 2020 Oct 1.

Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan, Phone: +81-88-6337356, e-mail:

Aim And Objective: To present a growing patient with unilateral mandibular hypoplasia and microtia involved in the first and second branchial arch syndrome (FSBAS) treated with functional appliance.

Background: The FSBAS comprises several developmental facial hypoplasia in ear and maxillofacial bones, resulting in hemifacial microsomia. Treatment for hemifacial microsomia varies greatly depending on the grade of mandibular deformities. Read More

J Oral Biosci 2021 Jun 5;63(2):184-191. Epub 2021 Mar 5.

Division of Orofacial Functions and Orthodontics, Kyushu Dental University, 2-6-1 Manazuru, Kokurakita-ku, Kitakyushu, Fukuoka, 803-8580, Japan. Electronic address:

Objectives: Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene are responsible for several severe forms of craniosynostotic disorders, such as Apert and Crouzon syndromes. Patients with craniosynostotic disorders caused by a mutation in Fgfr2 present with several clinical symptoms, including hypersalivation. Here we used a transgenic mouse model of Apert syndrome (Fgfr2 mice) to evaluate the morphology of the submandibular glands at embryonic day 15. Read More

Am J Occup Ther 2021 Mar-Apr;75(2):7502205100p1-7502205100p10

Mary A. Khetani, ScD, is Associate Professor, Department of Occupational Therapy, College of Applied Health Sciences and Program in Rehabilitation Sciences, University of Illinois at Chicago, and Research Scientist, CanChild Centre for Childhood Disability Research, McMaster University, Hamilton, Ontario, Canada;

Importance: Knowledge of unmet school participation needs for students with craniofacial microsomia (CFM) can inform decisions regarding intervention support.

Objective: To compare students with and without CFM on school participation (i.e. Read More

Cureus 2021 Jan 20;13(1):e12821. Epub 2021 Jan 20.

Plastic and Reconstructive Surgery, Nicklaus Childrens Hospital, Miami, USA.

Frontonasal dysplasia (FND) is a rare congenital craniofacial cleft syndrome associated with a spectrum of midline facial bone and soft-tissue malformations. When present, the physical features of FND are often obvious and classified at birth. The resultant facial deformities have the potential to negatively influence psychosocial health and quality of life. Read More

J Craniomaxillofac Surg 2021 May 12;49(5):352-357. Epub 2021 Feb 12.

Department of Craniofacial and Special Care Orthodontics, School of Dental Medicine, Case Western Reserve University, Cleveland, OH, USA. Electronic address:

Aim Of The Study: Patients with Hemifacial Microsomia (HFM) exhibit highly variable skeletal and soft tissue asymmetries. The purpose of this study was to evaluate soft tissue discrepancies in patients with HFM and correlate them to the skeletal discrepancy. Eight patients were selected and studied retrospectively using 3-dimensional (3D) superimposition and color mapping of the soft and hard tissues. Read More

Medicine (Baltimore) 2021 Feb;100(7):e24693

Department of Neurosurgery, The Maternal and Child Health Hospital of Hainan Province, Haikou, Hainan, China.

Rationale: Crouzon syndrome is a craniofacial malformation caused by premature fusion of fibrous sutures in infants. It is one of the most common craniosynostosis syndromes, and surgery is the only effective treatment for correcting it. Postoperative complications such as encephalocele, infections, hematoma have been reported. Read More

J Craniofac Surg 2021 Feb 18. Epub 2021 Feb 18.

Plastic Surgery Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

Background: The goal of this study is to analyze the safety of reconstructive surgeries for Crouzon syndrome, and to understand the deformities and complications related to the surgical procedure.

Methods: Thirty-nine subjects underwent preoperative computed tomographic scans were included (Crouzon, n = 19; controls, n = 20) in this study. Craniofacial cephalometric measurements were analyzed by Materialise software. Read More