Plast Reconstr Surg 2017 Oct 12. Epub 2017 Oct 12.

1. Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Necker - Enfants Malades, Service de chirurgie maxillofaciale et plastique ; Université Paris Descartes, & Centre de références des malformations de la face et de la cavité buccale; Paris, France 2. Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Necker - Enfants Malades, Unité de chirurgie crâniofaciale, Service de neurochirurgie ; Université Paris Descartes & Centre de référence des malformations crânio-faciales; Paris, France 3. INSERM U1132 & Université Paris-Diderot, Paris, France 4. Clinique Marcel Sembat (Ramsay - Générale de Santé, Boulogne-Billancourt, France).

Background: Frontofacial monobloc advancement (FFMBA) creates a communication between the anterior cranial fossa and nasal cavities. To tackle this issue, trans-orbital pericranial pedicled flaps (PF) are routinely performed in our center. This study aimed to assess the post-operative ossification of the anterior skull base and PF following FFMBA, and to identify factors influencing this ossification. Read More

World Neurosurg 2017 Oct 9. Epub 2017 Oct 9.

Unité de Chirurgie Craniofaciale, Service de Neurochirurgie Pédiatrique, Centre de Référence National des Dysostoses Crâniofaciales, Hôpital Necker-Enfants Malades, APHP, PARIS, FRANCE; Service de Neurochirurgie pédiatrique, Hôpital Femme Mère Enfant, LYON, France; Université Claude Bernard, LYON, France.

Background: The age of closure of skull base synchondroses has never been analyzed in a homogenous population of children with Crouzon syndrome.

Method: A retrospective case-control study was performed on 30 Crouzon children (17M, 13F) aged 1 month to 12.48 years with Fibroblast Growth Factor Receptor type 2 mutation. Read More

Radiographics 2017 Oct;37(6):1813-1830

From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (K.M.S.); Department of Radiology, University of Texas Health Science Center San Antonio, San Antonio, Tex (A.K.S.); and Department of Radiology, University of Iowa College of Medicine, Iowa City, Iowa (S.C.K.).

Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Read More

J Craniomaxillofac Surg 2017 Sep 21. Epub 2017 Sep 21.

Department of Plastic Surgery (Head: Prof. K. Yoshimura), Jichi Medical University, 3311-1, Yakushiji, Shimotsuke, 329-0498, Tochigi, Japan. Electronic address:

Background: Although the charting of normal intracranial volume (ICV) is fundamental for managing craniosynostosis, Asian norms in this regard are unknown. The purpose of this study was to establish a growth curve for ICVs in a large series of normal Asian children, providing reference values to guide corrective surgery.

Methods: A total of 124 normal children (male, 63; female, 61) and 41 children diagnosed with craniosynostoses were analyzed. Read More

J Pediatr Neurosci 2017 Apr-Jun;12(2):199-202

Department of Neurosurgery/Pediatric Neurosurgery, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.

We report a case of surgical management of Crouzon syndrome with multisuture craniosynostosis presenting with increased intracranial pressure (ICP) manifesting with chronic papilledema without ventriculomegaly. A 12-month-old boy had complete resolution of papilledema after posterior cranial vault distraction followed by staged fronto-orbital advancement. Expansion of the cranial vault with posterior distraction osteogenesis posed an elegant treatment, obviating ventriculoperitoneal shunt placement for cerebrospinal fluid (CSF) diversion. Read More

J Pediatr Neurosci 2017 Apr-Jun;12(2):149-153

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

Introduction: Traumatic injuries are the leading cause of death and a major cause of disability among children. About 70%-80% of the accidental deaths in pediatric age group result directly from central nervous system lesions.

Methods: The purpose of our study was to study all the patients of ≤18 years of age with head or spinal injury admitted in neurointensive care unit at our center, an apex trauma center in a developing country, between June 2009 and September 2011. Read More

Mol Med Rep 2017 Aug 29. Epub 2017 Aug 29.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑Sen University, Guangzhou, Guangdong 510060, P.R. China.

The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and characterize the associated clinical features. A total of two Chinese patients diagnosed with Crouzon syndrome underwent complete examinations, including best‑corrected visual acuity, slit‑lamp, examination, fundus examination, optical coherence tomography and computed tomography of the skull. Genomic DNA was extracted from peripheral blood samples collected from the patients, as well as their family members and 200 unrelated control subjects from the same population. Read More

Indian Pediatr 2017 Aug;54(8):697

Departments of *Pediatrics and #Ophthalmology, Government Medical College, Thrissur, Kerala, India.

Ann Anat 2017 Sep 6. Epub 2017 Sep 6.

Department of Oral Rehabilitation, Division of Prosthodontics, Poznań University of Medical Sciences, Poznan, Poland.

The cleidocranial dysplasia is general skeletal disorder with an autosomal dominant inheritance. It is manifested by many craniofacial abnormalities, of which the maxillary hypoplasia is the most evident. The aim of the study was to use CBCT to evaluate the volume of the maxillary sinuses and the dimensions of maxillae in patients with CCD and compare them with healthy individuals. Read More

Plast Reconstr Surg 2017 Sep;140(3):571-580

Seattle, Wash.; and Boston, Mass. From the Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Washington; the Centers for Child Health, Behavior and Development, Clinical and Translational Research, and Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute; the Craniofacial Center, Seattle Children's Hospital; and the Department of Epidemiology, Boston University School of Public Health.

Background: The authors compared the IQ and academic achievement of adolescents with craniofacial microsomia (cases) and unaffected children (controls). Among cases, the authors analyzed cognitive functioning by facial phenotype.

Methods: The authors administered standardized tests of intelligence, reading, spelling, writing, and mathematics to 142 cases and 316 controls recruited from 26 cities across the United States and Canada. Read More

Plast Reconstr Surg 2017 Aug 8. Epub 2017 Aug 8.

From the 1Wyss Department of Plastic Surgery at NYU Langone Medical Center, New York, NY 10016.

Background: Maxillary position in patients with syndromic craniosynostosis after midface distraction has been shown to be stable 1 year postoperatively. The purpose of this study is to assess midfacial position in the growing child with craniosynostosis 5 years after Le Fort III advancement with a rigid external device (RED).

Methods: Seventeen consecutive patients were identified to have the diagnosis of syndromic craniosynostosis and who underwent midface advancement. Read More

Front Hum Neurosci 2017 25;11:369. Epub 2017 Jul 25.

Department of Anthropology, Pennsylvania State UniversityUniversity Park, PA, United States.

The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept developed in vertebrate morphology and evolutionary biology, describes the coordinated variation of functionally and developmentally related traits of organisms. Syndromic craniosynostosis is characterized by distinctive changes in skull morphology and perceptible, though less well studied, changes in brain structure and morphology. Read More

PLoS One 2017 4;12(8):e0177223. Epub 2017 Aug 4.

Plastic & Reconstructive Surgery, and Craniofacial Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.

Background: Hemifacial microsomia (HFM) features hypoplasia and asymmetry in skeletal as well as soft tissue, and correction of the deformity is difficult in terms of aesthetic outcome. The purpose of this study is to examine the validity of an integrated treatment protocol for correction of this facial deformity.

Patients And Methods: A retrospective study was performed on adult HFM patients who received two-jaw orthognathic surgery combined with facial contouring procedures in the first stage, and fat injection for the residual facial deficiency in the second stage. Read More

BMC Genet 2017 Aug 2;18(1):74. Epub 2017 Aug 2.

Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.

Background: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Read More

Oman J Ophthalmol 2017 May-Aug;10(2):120-122

Department of Internal Disease, Baglar Hospital, Diyarbakir, Turkey.

Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. Read More

J Craniofac Surg 2017 Sep;28(6):e595-e597

Maxillofacial Surgery Center, Plastic Surgery Hospital of Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS&PUMC), Beijing, China.

A rare patient of reducible eyeball luxation after cranioplasty in a child Crouzon syndrome was reported. To remedy the patient's chronic intracranial hypertension and brachycephaly, orbitofrontal advancement and cranial vault remodeling were carried out. About 25 days of postoperation, an acute eyeball luxation was observed, with the presence of a subcutaneous accumulation of liquid in the bilateral temporal regions. Read More

Hereditas 2018 3;155. Epub 2017 Jul 3.

State Key Laboratory for Conservation and Utilization of Bio-resources in Yunnan, Yunnan University, Kunming, China.

Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, we scan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm to identify the identity-by-decent (IBD) segments and compare the frequency among the patients and normal relatives. Read More

J Plast Reconstr Aesthet Surg 2017 Oct 7;70(10):1449-1456. Epub 2017 Feb 7.

Department of Plastic and Reconstructive Surgery, Osaka City General Hospital, Japan. Electronic address:

Nager syndrome, also known as Nager acrofacial dysostosis, was first described by Nager and de Reynier in 1948. The patients commonly present with micrognathia, and a preventive tracheostomy is necessary when there are symptoms of upper airway obstruction. Mandibular distraction osteogenesis is considered as an effective procedure, which not only improves micrognathia but also minimizes the chances of tracheostomy. Read More

Plast Reconstr Surg 2017 Jul;140(1):82e-93e

Philadelphia, Pa. From the Division of Plastic Surgery, The Children's Hospital of Philadelphia; and the Division of Plastic Surgery, Perelman School of Medicine, University of Pennsylvania.

Learning Objectives: After studying this article, the participant should be able to: 1. Understand the role of prenatal screening and counseling of parents of unborn children with syndromic craniosynostosis. 2. Read More

Orthod Craniofac Res 2017 Jun;20 Suppl 1:50-56

Children's Mercy Hospital, Kansas City, MO, USA.

Objectives: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Read More

Mol Syndromol 2017 Mar 13;8(2):93-97. Epub 2017 Jan 13.

Institute of Human Genetics, University of Würzburg, Würzburg, Germany.

Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 (FGFR2). An overlapping phenotype with Muenke and Crouzon syndrome with acanthosis nigricans (FGFR3 mutations) is known. The clinical diagnosis can be corroborated by molecular studies in about 80-90% of the cases. Read More

J Dent Res 2017 Aug 12;96(9):965-974. Epub 2017 Jun 12.

1 Institute of Animal Physiology and Genetics, v.v.i., Czech Academy of Sciences, Brno, Czech Republic.

Primary cilium is a solitary organelle that emanates from the surface of most postmitotic mammalian cells and serves as a sensory organelle, transmitting the mechanical and chemical cues to the cell. Primary cilia are key coordinators of various signaling pathways during development and maintenance of tissue homeostasis. The emerging evidence implicates primary cilia function in tooth development. Read More

Plast Reconstr Surg 2017 Sep;140(3):434e-445e

Winston Salem, N.C.; Philadelphia, Pa.; New Haven, Conn.; and New York, N.Y. From the Department of Plastic and Reconstructive Surgery, Wake Forest University; the Division of Plastic Surgery, University of Pennsylvania; the Division of Plastic and Reconstructive Surgery, Yale University; and the Hansjorg Wyss Department of Plastic Surgery and the Department of Radiology, New York University.

Background: Infants with craniofacial dysostosis syndromes may present with midface abnormalities but without major (calvarial) suture synostosis and head shape anomalies. Delayed presentation of their calvarial phenotype is known as progressive postnatal craniosynostosis. Minor sutures/synchondroses are continuations of major sutures toward and within the skull base. Read More

Ann Plast Surg 2017 Sep;79(3):275-279

From the *Division of Plastic and Reconstructive Surgery, Department of Surgery, Washington University School of Medicine in St Louis, St Louis, MO; and †Department of Plastic and Reconstructive Surgery, The Warren Alpert Medical School of Brown University, Providence, RI.

Background: Distraction osteogenesis with a rigid external distractor is a widely accepted treatment for midfacial hypoplasia. In this study, the authors introduce the utilization of alar pinning with the external halo distractor for maxillary advancement, in place of an oral splint.

Methods: A retrospective chart review was conducted of 7 patients who successfully underwent distraction osteogenesis using the alar pinning technique. Read More

Am J Med Genet A 2017 May 30. Epub 2017 May 30.

Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA/USP), Bauru, São Paulo, Brazil.

Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and micrognathia. Here, we describe the clinical and radiographic sings of 13 individuals (12 female and 1 male) from eight unrelated kindreds with MFD Bauru type, including four previously reported cases, treated at the Hospital for Rehabilitation of Craniofacial Anomalies. The clinical phenotype was characterized by severe underdevelopment of mandible, midface hypoplasia, orofacial cleft, bitemporal narrowing, mild upper eyelid down slanting, high nasal bridge, thick and everted lower lip, minor ears abnormalities, and hearing loss. Read More

FEBS J 2017 Jul 14;284(14):2183-2193. Epub 2017 Jun 14.

Department of Chemistry and Center of Biomolecular Science, George Washington University, DC, USA.

Mutations of human MID1 are associated with X-linked Opitz G Syndrome (XLOS), which is characterized by midline birth defects. XLOS-observed mutations within the MID1 B-box1 domain are associated with cleft lip/palate, wide-spaced eyes and hyperspadias. Three of the four XLOS-observed mutations in the B-box1 domain results in unfolding but the structural and functional effects of the P151L mutation is not characterized. Read More

J Craniofac Surg 2017 Jul;28(5):e441-e444

*Department of Plastic and Reconstructive Surgery, Seoul National University Hospital †Ever Plastic Surgery Clinic, Seoul, Korea.

Crouzon syndrome is a rare genetic disorder with autosomal-dominant inheritance that shows a triad of hallmark characteristics: craniosynostosis, exophthalmos, and midface retrusion. General treatment protocol for patients with Crouzon syndrome has already been established, but there is no standard treatment strategy for adult patients with Crouzonoid appearance. The authors present clinical patients of 1-stage orthognathic and face contouring surgery to achieve functional and aesthetic improvement. Read More

J Craniomaxillofac Surg 2017 Jul 8;45(7):1069-1073. Epub 2017 Apr 8.

Department of Plastic, Reconstructive and Hand Surgery, Dutch Craniofacial Centre, Rotterdam, The Netherlands.

Introduction: The investigators hypothesized that patients with Crouzon syndrome and premature fusion of the spheno-occipital synchondrosis (SOS) more often have, or have more severe midface hypoplasia and obstructive sleep apnea (OSA).

Methods: A prospective cohort study was performed among patients with Crouzon syndrome to analyze SOS closure, midface hypoplasia represented by the sella-nasion angle (SNA) and OSA.

Results: Forty patients were included in whom the OSA-prevalence was 65%. Read More

J Craniofac Surg 2017 May;28(3):696-699

*Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine †Department of Otolaryngology, Texas Children's Hospital, Houston, TX.

Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Read More

Oral Maxillofac Surg 2017 May 1. Epub 2017 May 1.

Department of Oral and Maxillofacial Surgery, College of Dentistry, Federal University of Ceará, Sobral, Ceará, Brazil.

In recent years, several studies related to fixation systems have been published, but few suggest any variations of the Le Fort I osteotomy technique, and the use of plates and screws placed along the canine and zygomatic pillar are common. The 20-year-old patient with Crouzon syndrome presented with severe hypoplasia of the maxillary, mandibular prognathism, and class III facial pattern. The patient underwent orthognathic surgery and high Le Fort I osteotomy with the fixation of eight positional screws. Read More

Clin Genet 2017 Apr 29. Epub 2017 Apr 29.

Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1-endothelin receptor type A signaling pathway. Animal models have highlighted the role of the transcription factor MEF2C as an effector of this pathway. We report heterozygous MEF2C loss-of-function as a possible cause of question mark ear associated with intellectual deficiency. Read More

Plast Reconstr Surg 2017 May;139(5):1200-1209

Beijing, People's Republic of China From the Department of Auricular Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.

Background: Reconstruction of external ear is important for the child/adult with craniofacial deformities to achieve balance and harmony of the face and head. The aim of this study was to investigate the clinical application of an expanded two-flap method for auricular reconstruction in hemifacial microsomia.

Methods: Between January of 2014 and November of 2015, 111 hemifacial microsomia patients with microtia underwent auricular reconstruction with an expanded two-flap method. Read More

Head Face Med 2017 Mar 30;13(1). Epub 2017 Mar 30.

Interdisciplinary Centre for Craniofacial Malformations, Tuebingen University Hospital, Calwerstrasse 7, 72076, Tuebingen, Germany.

Background: Infants with Robin sequence (RS) suffer from upper airway obstruction (UAO) and feeding problems. We developed an oral appliance with a velar extension in combination with functional treatment and appropriate feeding techniques, which was proven effective in isolated RS. As the above problems are particularly challenging in syndromic RS, we set out to evaluate our treatment concept also in these patients. Read More

Plast Reconstr Surg 2017 Apr;139(4):967-975

London and Oxford, United Kingdom From the Departments of Craniofacial Surgery and Ophthalmology, Great Ormond Street Hospital, London, United Kingdom.

Background: Complex surgery for appearance change is controversial. Correction of orbital hypertelorism risks diplopia and loss of stereopsis for aesthetic gain. The risk-to-benefit ratio remains ill-defined. Read More

Plast Reconstr Surg 2017 Apr;139(4):941e-953e

New York and Bronx, N.Y.; Chicago, Ill.; and Brussels, Belgium From the New York Langone Medical Center, Institute of Reconstructive Plastic Surgery; Montefiore Medical Center/Albert Einstein; Mount Sinai University Medical Center; Loyola University Medical Center; and the Department of Surgery, University de Bruxelles.

Background: There is controversy regarding the treatment of young patients with unilateral craniofacial microsomia and moderate dysmorphism. The relative indication for mandibular distraction in such patients poses several questions: Is it deleterious in the context of craniofacial growth and appearance? This study was designed to address these questions.

Methods: A retrospective review of patients undergoing mandibular distraction by a single surgeon between 1989 and 2010 was conducted. Read More

JMM Case Rep 2017 Feb 28;4(2):e005086. Epub 2017 Feb 28.

Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine , 111 E 210th St, Bronx, NY 10467 , USA.

Introduction.Moraxella nonliquefaciens is an unusual organism to be isolated from cerebral spinal fluid (CSF) and there exists only one case report of M. nonliquefaciens meningitis from a neonate. Read More

Am J Med Genet A 2017 May 21;173(5):1328-1333. Epub 2017 Mar 21.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

STAR syndrome is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations, and is caused by loss-of-function variants in FAM58A. Our proband presented with the hallmark features of STAR syndrome, as well as some additional less typical features including tethered cord and hearing loss. The proband's mother and maternal half-sister had similar clinical histories, but had variability in phenotypic severity. Read More

Br J Ophthalmol 2017 Mar 20. Epub 2017 Mar 20.

Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Purpose: V-pattern strabismus observed with syndromic craniosynostosis has been attributed to disparate causes. We compared severity of V pattern with degree of excyclorotation of rectus muscles to appraise significance of this proposed aetiology.

Methods: 43 patients with Apert, Crouzon or Pfeiffer syndrome referred to Boston Children's Hospital Department of Ophthalmology were identified. Read More

Am J Med Genet A 2017 May 20;173(5):1208-1218. Epub 2017 Mar 20.

Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.

Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. Read More

Anesth Essays Res 2017 Jan-Mar;11(1):246-247

Department of Anaesthesia, AIIMS, New Delhi, India.

Crouzon syndrome (CS) is an autosomal dominant genetic disorder characterized by craniofacial dysostosis. Premature fusion of skull base leads to midfacial hypoplasia, shallow orbit, mandibular prognathism, overcrowding of upper teeth, high-arched palate, and upper airway obstruction. It is important for anesthesiologists managing such patients to recognize and avoid potential airway complications. Read More

Wiley Interdiscip Rev Dev Biol 2017 May 10;6(3). Epub 2017 Feb 10.

Division of Dentistry, Faculty of Biology, Medicine & Health, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Manchester, UK.

Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies. Read More

Am J Med Genet A 2017 Apr 9;173(4):1097-1101. Epub 2017 Feb 9.

Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p. Read More

J Craniofac Surg 2017 Jan 30. Epub 2017 Jan 30.

*Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine †Department of Otolaryngology, Texas Children's Hospital, Houston, TX.

Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Read More

Plast Reconstr Surg 2017 02;139(2):488e-490e

Dallas, Texas From The Craniofacial Center.

Plast Reconstr Surg 2017 Feb;139(2):477e-487e

London, United Kingdom; and Rotterdam, The Netherlands From the Department of Craniofacial Surgery, Great Ormond Street Hospital for Children; the Department of Medical Physics and Bioengineering, University College London Hospital; and the Department of Oral and Maxillofacial Surgery, Erasmus Medical Centre.

Background: Crouzon-Pfeiffer syndrome is caused by mutations predominantly in the FGFR2 gene leading to syndromic craniosynostosis and midfacial hypoplasia. Monobloc distraction aims to correct both functional and aesthetic disharmony as a result of midfacial hypoplasia. This study evaluates the corrective effects and effectiveness of monobloc distraction in Crouzon-Pfeiffer patients. Read More

Eur J Med Genet 2017 Mar 19;60(3):190-194. Epub 2017 Jan 19.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address:

Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p. Read More

Rev Esp Anestesiol Reanim 2017 Apr 13;64(4):233-236. Epub 2017 Jan 13.

Anesthesiology Department, Centro Hospitalar de Lisboa Central, EPE, Lisboa, Portugal.

Neonates and small infants with syndromes characterized by the presence of craniofacial abnormalities may represent great challenges regarding the management of the airway. We describe the case of a 9-day-old neonate with Treacher Collins syndrome, in which a laryngeal mask was essential to improve the airway obstruction, ventilate the patient and serve as an airway conduit for a fiberoptic intubation. By presenting this case, we intend to show that in neonates with Treacher Collins syndrome, in whom difficulties ventilation and intubation are expected, a thoughtful airway management planning is mandatory. Read More

Niger J Clin Pract 2017 Feb;20(2):261-263

Department of Oral and Maxillofacial Radiology, School of Dentistry, Istanbul Medipol University, Istanbul, Turkey.

Crouzon syndrome (CS) is an autosomal dominant disorder characterized by craniofacial deformities caused by the early closure of cranial sutures. It is diagnosed by the presence of a flat sphenoid bone, protrusion of eyeballs (exophthalmos), and midfacial hypoplasia. Although hypodontia is usually present in cases with CS, supernumerary teeth are rarely seen. Read More

Int J Prosthodont 2017 Jan/Feb;30(1):54-57

Hemifacial microsomia is the second most frequently encountered congenital facial anomaly after cleft lip and palate. This case history report describes a two-implant-supported auricular prosthetic reconstruction in a young patient with an absent auricle and malpositioned lobule. The selected treatment protocol was chosen because of its superior retention when compared with alternative retention systems. Read More

Acta Odontol Scand 2017 Apr 12;75(3):179-185. Epub 2017 Jan 12.

c CLINTEC, Division of Speech and Language Pathology , Karolinska Institutet , Stockholm , Sweden.

Objective: The aim was to assess orofacial function and monitor oral care in patients with amyotrophic lateral sclerosis (ALS) to maintain oral comfort and oral health.

Materials And Methods: A case series of 14 patients newly diagnosed with ALS accepted to participate in a quality improvement project. After initial examinations, baseline oral conditions were obtained and the patients were seen every 3 months. Read More