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

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 Jul 26. Epub 2017 Jul 26.

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 Feb 7. 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

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 May 31. Epub 2017 May 31.

1 Department of Plastic and Reconstructive Surgery, Wake Forest University, Winston Salem, NC 2 Division of Plastic Surgery, University of Pennsylvania, Philadelphia, PA 3 Division of Plastic and Reconstructive Surgery, Yale University, New Haven, CT 4 Hansjorg Wyss Department of Plastic Surgery, New York University, New York, NY 5Department of Radiology, New York University, New York, NY.

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

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

Ann Card Anaesth 2017 Jan;20(Supplement):S61-S66

Department of Cardiac Anaesthesia, Cardio thoracic Centre, All India Institute of Medical Sciences, New Delhi, India.

Goldenhar syndrome or oculo-auriculo-vertebral dysplasia was defined by Goldenhar in 1952 and redefined by Grolin et al. later. As the name denotes, children with this syndrome present with craniofacial and vertebral anomalies which increase the risk of airway compromise. Read More

Biol Open 2017 Feb 15;6(2):223-231. Epub 2017 Feb 15.

UCL Great Ormond Street, Institute of Child Health, University College London, London, WC1N 1EH, UK

Syndromic craniosynostosis caused by mutations in FGFR2 is characterised by developmental pathology in both endochondral and membranous skeletogenesis. Detailed phenotypic characterisation of features in the membranous calvarium, the endochondral cranial base and other structures in the axial and appendicular skeleton has not been performed at embryonic stages. We investigated bone development in the Crouzon mouse model (Fgfr2(C342Y)) at pre- and post-ossification stages to improve understanding of the underlying pathogenesis. Read More

J Craniofac Surg 2017 Jan;28(1):14-16

*Division of Neurosurgery, Children's National Health System †The George Washington University School of Medicine and Health Sciences, Washington, DC ‡Department of Neurosurgery, Mayo Clinic Hospital, Rochester, MN §Division of Laboratory Medicine, Children's National Health System, Washington, DC ||TLC Perinatal, Silver Spring, MD ¶Division of Plastic and Reconstructive Surgery, Children's National Health System, Washington, DC.

Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes. Read More

J Craniofac Surg 2017 Jan 5. Epub 2017 Jan 5.

*Department of Cleft Lip and Palate †Department of Maxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Purpose: Midface distraction osteogenesis has been popularized for the correction of midface hypoplasia associated with exophthalmos and obstructive sleep apnea in patients with Crouzon syndrome. The purpose of this study was to present the method of utilizing the modified external device with elastic distraction for the midface advancement in Crouzon syndrome, and the clinical outcomes and skeletal changes were analyzed.

Methods: Five consecutive patients with Crouzon syndrome underwent Le Fort III osteotomy with midface advancement using a modified external device with elastic distraction. Read More

Mol Med Rep 2017 Feb 29;15(2):793-797. Epub 2016 Dec 29.

Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China.

Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT‑PS has been mapped to 7q36.3. Read More

Br J Gen Pract 2017 Jan;67(654):32-33

Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, US.

Eur J Hum Genet 2017 Feb 14;25(3):371-375. Epub 2016 Dec 14.

Department of Woman and Child Health, Clinical Genetics Unit, University of Padova, Padova, Italy.

Nager syndrome is a rare preaxial acrofacial dysostosis that is caused by heterozygous loss-of-function variants in SF3B4. This gene encodes for a protein required for the assembly of spliceosomal complexes, being a master gene for splicing regulation. The main clinical features of Nager syndrome include facial-mandibular and preaxial limb malformations, with normal cognitive functioning. Read More

J Craniofac Surg 2017 Jan;28(1):129-133

Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing, P.R. China.

Patients with severely hypoplastic mandibles usually require condylar reconstruction. This study aimed to describe costochondral graft (CCG) for condylar reconstruction and report subsequent outcomes of these grafts in young children with Pruzansky/Kaban type IIB and type III mandibular hypoplasia. This study included 4 young children with type IIB and type III hemifacial microsomia treated with CCG to reconstruct the condyle at the Department of Oral and Maxillofacial Surgery in our hospital from March 2008 to March 2014. Read More

J Pediatr Genet 2016 Dec 12;5(4):209-219. Epub 2016 Oct 12.

Division of Plastic and Reconstructive Surgery, Icahn School of Medicine at Mount Sinai, New York, New York, United States.

Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal relationship between the upper jaw (maxilla) and the lower jaw (mandible). They may be the result of anomalies of the teeth alone, the bones alone, or both. Read More

Forensic Sci Med Pathol 2016 Dec 28;12(4):506-509. Epub 2016 Nov 28.

Alpha Medical s.r.o., Hraničná 2, 040 17, Košice, Slovak Republic.

In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Read More

J Craniofac Surg 2017 Jan;28(1):79-83

Han Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY.

Background: The microvascular free fibula flap has become the gold standard for reconstruction of complex mandibular defects since its description by Hidalgo in 1989. Prior studies have demonstrated its safety and efficacy in the pediatric population. However, this reconstructive method is often used only as a last resort for correction of congenital mandibular hypoplasia, after failure of bone grafting and distraction osteogenesis. Read More

J Bone Miner Res 2017 Apr 14;32(4):757-769. Epub 2016 Dec 14.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA.

In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). However, no attestations followed. Read More

J Curr Ophthalmol 2016 Dec 27;28(4):232-236. Epub 2016 Aug 27.

Doheny Eye Institute UCLA, Los Angeles, CA, USA.

Purpose: We present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2. As a secondary aim, we examine the utility of optical coherence tomography (OCT) angiography for visualization of peripapillary vasculature obscured by myelination on other imaging modalities.

Methods: A 24-year-old woman with Crouzon syndrome was evaluated for suspected optic neuritis in the right eye. Read More

Int J Ophthalmol 2016 18;9(10):1403-1408. Epub 2016 Oct 18.

Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities), Yinchuan 750001, Ningxia Hui Autonomous Region, China.

Aim: To describe the clinical characteristics with genetic lesions in a Chinese family with Crouzon syndrome.

Methods: All five patients from this family were included and received comprehensive ophthalmic and systemic examinations. Direct sequencing of the FGFR2 gene was employed for mutation identification. Read More