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Facial growth

Yu Sun, Guorui Hu, Huili Liu, Xia Zhang, Zhuo Huang, Hui Yan, Lili Wang, Yanjie Fan, Xuefan Gu, Yongguo Yu
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. Here, we report two Chinese boys with novel nonsense KMT2A mutations. Most of their phenotypes are concordant with WDSTS. They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the KMT2A mutation carriers. The consensus phenotypes include postnatal growth retardation, developmental delay, short stature, and intellectual disability...
October 19, 2016: American Journal of Medical Genetics. Part A
Soung Min Kim, Emmanuel K Amponsah, Hui Young Kim, Ik Jae Kwon, Hoon Myoung, Jong Ho Lee
: Ameloblastoma is the most common benign odontogenic tumor of the jaw, and expansional growth of a huge untreated ameloblastoma can result in disturbances in facial aesthetics and function, such as difficulty with mouth opening, swallowing, chewing, breathing, neurologic deficits, and pathologic fractures. Radical wide resection with safety margins and subsequent reconstruction is generally recommended. A fibular free flap (FFF) is commonly used to reconstruct the mandible in order to adequately restore both aesthetic appearance and function...
September 2016: Ghana Medical Journal
Youn Hee Jee, Nadine Sowada, Thomas C Markello, Iraj Rezvani, Guntram Borck, Jeffrey Baron
Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature, but also other organs/tissues causing additional clinical abnormalities. The proband was evaluated at 10 years of age for impaired postnatal linear growth (height 113.3 cm, -4.6 SDS), a bone age that was delayed by 5 years, dysmorphic facies, cognitive impairment, and central nervous system anomalies. His younger brother, presented only with growth failure at 10 months of age...
October 17, 2016: Clinical Genetics
Constantin von Kirschbaum, Robert Gürkov
Introduction. Vestibular schwannomas (VS) are benign tumours of the vestibular nerve and can lead to hearing loss, tinnitus, vertigo, facial palsy, and brainstem compression. Audiovestibular diagnostic tests are essential for detection and treatment planning. Methods. Medline was used to perform a systematic literature review with regard to how audiovestibular test parameters correlate with symptoms, tumour size, and tumour location. Results. The auditory brainstem response can be used to diagnose retrocochlear lesions caused by VS...
2016: BioMed Research International
Yik Weng Yew, Cerrene N Giordano, Graciela Spivak, Henry W Lim
Photodermatoses associated with defective DNA repair are a group of photosensitive hereditary skin disorders. In this review, we focus on diseases and syndromes with defective nucleotide excision repair that are not accompanied by an increased risk of cutaneous malignancies despite having photosensitivity. Specifically, the gene mutations and transcription defects, epidemiology, and clinical features of Cockayne syndrome, cerebro-oculo-facial-skeletal syndrome, ultraviolet-sensitive syndrome, and trichothiodystrophy will be discussed...
November 2016: Journal of the American Academy of Dermatology
S Rosahl, D Eßer
BACKGROUND: The experience of the medical team, interdisciplinarity, quality of the physician-patient relationship, sensible use of modern technology, and a sound knowledge about the long-term results of observation and interventions all influence treatment quality in patients with vestibular schwannomas. OBJECTIVES: Compilation of findings regarding the results of observation and microsurgical treatment of patients with these tumors. Deduction of strategies for the medical management from these data...
October 14, 2016: HNO
Natalie R Langley, Sandra Cridlin
Secular changes refer to short-term biological changes ostensibly due to environmental factors. Two well-documented secular trends in many populations are earlier age of menarche and increasing stature. This study synthesizes data on maximum clavicle length and fusion of the medial epiphysis in 1840-1980 American birth cohorts to provide a comprehensive assessment of developmental and morphological change in the clavicle. Clavicles from the Hamann-Todd Human Osteological Collection (n = 354), McKern and Stewart Korean War males (n = 341), Forensic Anthropology Data Bank (n = 1,239), and the McCormick Clavicle Collection (n = 1,137) were used in the analysis...
January 2016: Human Biology
Miguel Del Campo, Kenneth Lyons Jones
The fetal alcohol spectrum of disorders (FASD) includes four diagnostic categories for the clinical consequences of prenatal alcohol exposure (PAE) in the unborn child. Physical features are necessary for the diagnosis of the fetal alcohol syndrome (FAS) and partial pFAS. Moreover, these features are specific and a diagnosis of FAS can be made even in the absence of knowledge of PAE. Not only growth deficits, microcephaly and the 3 facial features (short palpebral fissures, smooth philtrum and narrow vermillion of the upper lip) are characteristic, since other dysmorphic features particularly in the hands are key to the recognition of FAS...
October 8, 2016: European Journal of Medical Genetics
Jean-Michel Salagnac
INTRODUCTION: The mandible consists of different segments, each of which possess its own specific characteristics regarding emergence, ossification during growth and pathologies. Orthodontists need to be very familiar with these developmental anomalies if they are to avoid failure in their orthopedic or orthodontic treatments and in order to understand the reasons for the lack of success of "conventional" treatments. Each segment must develop correctly if the mandible is to achieve optimal development and occupy a normal position within the cranio-facial complex...
September 2016: L' Orthodontie Française
Veerasathpurush Allareddy, Nicholas Ching, Eric A Macklin, Lauren Voelz, Gil Weintraub, Emily Davidson, Lisa Albers Prock, Dennis Rosen, Richard Brunn, Brian G Skotko
OBJECTIVE: The objective of the present study is to examine the craniofacial development of patients with Down syndrome (DS) and compare them with a neurotypical population. METHODS: This study is a cross-sectional analysis of lateral cephalometric radiographs of participants with DS. The study population consisted of children and young adults with DS aged 3-25 years. Cephalometric data were summarized by age and sex. Raw and normalized z-scores were computed. One-sample t tests were used to test whether mean z-scores differed from zero...
December 2016: Progress in Orthodontics
Matthew L Carlson, Nicholas L Deep, Neil S Patel, Larry B Lundy, Nicole M Tombers, Christine M Lohse, Michael J Link, Colin L Driscoll
OBJECTIVE: To elucidate the long-term clinical behavior, treatment, and outcomes of sporadic facial nerve schwannoma (FNS) in a large cohort of patients managed in the post-magnetic resonance imaging era. PATIENTS AND METHODS: Retrospective review at a single tertiary health care system (January 1, 1990, through December 31, 2015), evaluating 80 consecutive patients with sporadic FNS. RESULTS: Ninety-eight patients with FNS were identified; 10 with incomplete data and 8 with neurofibromatosis type 2 were excluded...
October 5, 2016: Mayo Clinic Proceedings
Ashley M Dao, Steven L Goudy
Repair of the cleft palate intends to establish the division between the oral and nasal cavity, thereby improving feeding, speech, and eustachian tube dysfunction all while minimizing the negative impact on maxillary growth. Before palate repair candidacy, timing and surgical method of repair is dependent on comorbid conditions, particularly cardiac disease, mandibular length, and palate width. Additionally, management of the alveolar cleft and the indications for gingivoperiosteoplasty versus secondary alveolar bone grafting is a controversial topic that weighs the risks and benefits of potentially sparing the patient an additional surgery against iatrogenic restriction of facial growth and malocclusion...
November 2016: Facial Plastic Surgery Clinics of North America
W Panmontha, P Amarinthnukrowh, P Damrongphol, T Desudchit, K Suphapeetiporn, V Shotelersuk
Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures. The disease is caused by mutations in the FUCA1 gene that lead to deficiency of a-L-fucosidase. Here, we describe the clinical and molecular features of a Thai boy with fucosidosis. Whole exome sequencing and array-based comparative genomic hybridization analysis revealed that the patient was compound heterozygous for a single base-pair deletion (c...
September 16, 2016: Genetics and Molecular Research: GMR
Nicolas -Xavier Bonne, Rabih Aboukais, Marc Baroncini, Audrey Hochart, Pierre Leblond, Franck Broly, Frédérique Dubrulle, Jean-Paul Lejeune, Christophe Vincent
OBJECTIVE: This study aims to describe the clinical and molecular presentation of pediatric neurofibromatosis type 2 (NF2) and the subsequent management of vestibular schwannomas (VS) and hearing rehabilitation. METHODS: This is a single-center retrospective study of neurofibromatosis type 2 diagnosed before the age of 18 years old from 1997. Natural history of vestibular schwannomas and surgical outcomes were evaluated using volumetric MRI, hearing, and facial nerve assessment...
October 4, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Justine Niemczyk, Alexander von Gontard, Monika Equit, David Medoff, Catharina Wagner, Leopold Curfs
AIMS: To assess the rates of incontinence and associated psychological problems in children, adolescents and adults with Down Syndrome, a genetic syndrome caused by partial or complete triplication (trisomy) of chromosome 21 and characterized by typical facial features, a physical growth delay and mild or moderate intellectual disability. METHODS: Three hundred and seventeen persons with Down Syndrome (4-51 years) were recruited through a German parent support group (59...
October 4, 2016: Neurourology and Urodynamics
M Phan, F Conte, K D Khandelwal, C W Ockeloen, T Bartzela, T Kleefstra, H van Bokhoven, M Rubini, H Zhou, C E L Carels
Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic review is to thoroughly investigate the current literature (PubMed, EMBASE) to identify the genes and genomic loci contributing to syndromic or non-syndromic co-occurrence of tooth agenesis and orofacial clefts, to gain insight into the molecular mechanisms underlying their dual involvement in the development of teeth and facial primordia...
December 2016: Human Genetics
Luis Ernesto Arriola-Guillén, Aron Aliaga-Del Castillo, Carlos Flores-Mir
BACKGROUND: The aim of this study was to determine the effect of the maxillary posterior dentoalveolar discrepancy (MPDD) on the angulation of maxillary molars in open bite subjects. METHODS: Pre-treatment lateral cephalograms of 90 young adults with skeletal open bite were examined. The sample initially included six groups categorized according to MPDD condition (present or absent) and sagittal skeletal facial growth patterns (classes I, II, or III). Then, the sample was separated into two groups according to MPDD (present = 50, absent = 40)...
December 2016: Progress in Orthodontics
E Arnaud, G Paternoster, S James, M-P Morisseau-Durand, V Couloigner, P Diner, C Tomat, V Viot-Blanc, B Fauroux, V Cormier-Daire, G Baujat, M Robert, A Picard, S Antunez, R Khonsari, L Pamphile-Tabuteau, C Legros, M Zerah, P Meyer
The complexity of treatment of faciocraniosynostosis justifies the treatment in a reference center for rare diseases. The growth disturbances in the skull and face being variable according to the type of mutation in the FGFr (Crouzon, Pfeiffer, Apert), the strategy is adapted to the phenotype according to the following principles: posterior expansion with or without distraction around 6 months to limit the descent of the cerebellum tonsils and to prevent the turricephalic development; fronto-facial monobloc advancement with internal distraction around the age of 18 months in case of severe exorbitism or breathing impairment...
October 2016: Annales de Chirurgie Plastique et Esthétique
Strahinja Vucic, Brunilda Dhamo, Mette A R Kuijpers, Vincent W V Jaddoe, Albert Hofman, Eppo B Wolvius, Edwin M Ongkosuwito
INTRODUCTION: The aim of our study was to evaluate the craniofacial characteristics of children with mild hypodontia using conventional and principal component (PC) analysis. METHODS: We used radiographic images of 124 children (8-12 years old) with up to 4 missing teeth (55 boys, 69 girls) and of 676 reference children (365 boys, 311 girls) from the Rotterdam Generation R Study and the Nijmegen Growth Study in The Netherlands. Fifteen cephalometric measurements of children with hypodontia were compared with those of the reference children...
October 2016: American Journal of Orthodontics and Dentofacial Orthopedics
Wanda Urbanova, Irena Klimova, Andrzej Brudnicki, Petra Polackova, Daniela Kroupova, Ivana Dubovska, Martin Rachwalski, Piotr Stanislaw Fudalej
Results of a comparison of the outcomes of treatment of cleft lip and palate can be affected by growth characteristics of populations from which subjects with the clefts are derived. Moreover, conventional cephalometric techniques used in cleft studies for analysis of facial morphology provide only a partial description of shape and are confounded by biases regarding the reference structures. In this retrospective comparison, craniofacial morphology of preadolescent patients with unilateral cleft lip and palate treated in Warsaw (n = 35, age = 10...
June 17, 2016: Journal of Cranio-maxillo-facial Surgery
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