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Aperts syndrome

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https://www.readbyqxmd.com/read/27753022/implementing-non-invasive-prenatal-diagnosis-nipd-in-a-national-health-service-laboratory-from-dominant-to-recessive-disorders
#1
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27740959/surgical-strategies-for-soft-tissue-management-in-hypertelorbitism
#2
Cassio Eduardo Raposo-Amaral, Rafael Denadai, Enrico Ghizoni, Cesar Augusto Raposo-Amaral
BACKGROUND: Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction. METHODS: A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. All aspects related to the craniofacial surgical procedures (number and type of procedures, outcomes, and complications) were verified through medical records, clinical photographs, and interviews with all patients...
October 6, 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/27692993/-craniofacial-strategy-for-syndromic-craniosynostosis
#3
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
https://www.readbyqxmd.com/read/27646570/ep01-09-the-role-of%C3%A2-2d-and-3d-ultrasound-in-the-prenatal-diagnosis-of-apert-syndrome
#4
C H Mulcahy, B Cathcart, F McAuliffe, P Mc Parland
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27644546/ep02-05-prenatal-diagnosis-of-apert-syndrome
#5
I Mendilcioglu, B Nur, C Y Sanhal, N Yuksel, O Alper, G Ceylaner
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27639780/fronto-facial-advancement-and-bipartition-in-crouzon-pfeiffer-and-apert-syndromes-impact-of-fronto-facial-surgery-upon-orbital-and-airway-parameters-in-fgfr2-syndromes
#6
Roman H Khonsari, Benjamin Way, Johan Nysjö, Guillaume A Odri, Raphaël Olszewski, Robert D Evans, David J Dunaway, Ingela Nyström, Jonathan A Britto
A major concern in FGFR2 craniofaciosynostosis is oculo-orbital disproportion, such that orbital malformation provides poor accommodation and support for the orbital contents and peri-orbita, leading to insufficient eyelid closure, corneal exposure and eventually to functional visual impairment. Fronto-facial monobloc osteotomy followed by distraction osteogenesis aims to correct midfacial growth deficiencies in Crouzon-Pfeiffer syndrome patients. Fronto-facial bipartition osteotomy followed by distraction is a procedure of choice in Apert syndrome patients...
August 21, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27622416/craniosynostosis-prenatal-diagnosis-by-2d-3d-ultrasound-magnetic-resonance-imaging-and-computed-tomography
#7
REVIEW
Talita Micheletti Helfer, Alberto Borges Peixoto, Gabriele Tonni, Edward Araujo Júnior
Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes...
September 2016: Medical Ultrasonography
https://www.readbyqxmd.com/read/27596369/spermatogonial-stem-cells-implications-for-genetic-disorders-and-prevention
#8
Makiko Yamada, Letizia De Chiara, Marco Seandel
Spermatogonial stem cells (SSCs) propagate mammalian spermatogenesis throughout male reproductive life by continuously self-renewing and differentiating, ultimately, into sperm. SSCs can be cultured for long periods and restore spermatogenesis upon transplantation back into the native microenvironment in vivo. Conventionally, SSC research has been focused mainly on male infertility and, to a lesser extent, on cell reprogramming. With the advent of genome-wide sequencing technology, however, human studies have uncovered a wide range of pathogenic alleles that arise in the male germline...
September 5, 2016: Stem Cells and Development
https://www.readbyqxmd.com/read/27562283/-craniosynostosis-and-strabismus
#9
A K Wang, X L Kang
Craniosynostosis(CS), the premature fusion of cranial sutures leading to an abnormal shape and precocious maturity of skull, is classified into Non-syndromic Craniosynostosis (NSC) and Syndromic Craniosynostoses(SC).NCS only has different abnormality of skull according to which cranial suture is involved while extra malformation of midface and limbs present in SCS. Common SCS contains Crouzon Syndrome, Apert Syndrome, Pfeiffer Sydrome, and etc. The clinical manifestation of CS includes malformation of skull, intracranial hypertension, brain hernia, developmental disorder of cerebral function, strabismus, and etc, while SCS has more complex manifestation...
August 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/27534905/evaluation-of-the-maxillofacial-morphological-characteristics-of-apert-syndrome-infants
#10
Hitomi Kakutani, Yoshiaki Sato, Yuri Tsukamoto-Takakusagi, Fumio Saito, Akihiko Oyama, Junichiro Iida
Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, 5 Japanese individuals with Apert syndrome from 5 years and 2 months to 9 years and 10 months without cleft palate were analyzed in this study...
August 17, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27531106/selective-mutation-accumulation-a-computational-model-of-the-paternal-age-effect
#11
Eoin C Whelan, Alexander C Nwala, Christopher Osgood, Stephan Olariu
MOTIVATION: As the mean age of parenthood grows, the effect of parental age on genetic disease and child health becomes ever more important. A number of autosomal dominant disorders show a dramatic paternal age effect due to selfish mutations: substitutions that grant spermatogonial stem cells a selective advantage in the testes of the father, but have a deleterious effect in offspring. In this paper we present a computational technique to model the spermatogonial stem cell niche in order to examine the phenomenon and draw conclusions across different genes and disorders...
August 16, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27497702/proposed-caudal-appendage-classification-system-spinal-cord-tethering-associated-with-sacrococcygeal-eversion
#12
C Corbett Wilkinson, Arianne J Boylan
INTRODUCTION: The most commonly used classification system for caudal appendages (aka human tails) dates from the 1980s and classifies appendages (tails) as either true tails or pseudotails. Advances in neuroimaging since the 1980s, however, as well as an ever-increasing number of reported cases, have made this system outdated. Sacrococcygeal eversion is a condition in which the distal sacral and coccygeal vertebrae are curved in a retroverted rather than anteverted direction. It can give rise to one type of caudal appendage...
August 6, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27438436/the-quality-of-life-in-adult-patients-with-syndromic-craniosynostosis-from-their-perspective
#13
Mark S Lloyd, Anuradha Venugopal, Johan Horton, Desiderio Rodrigues, Hiroshi Nishikawa, Nicholas White, Guirish Solanki, Peter Noons, Martin Evans, Stephen Dover
INTRODUCTION: Clinical intuition may perceive those adults with syndromic craniosynostosis to have a lower quality of life (QOL) compared with the normative population. Classification of facial difference; standardization of cognitive capacity and selection of an appropriate QOL measurement tool provides a less intuitive and more evidence-based method of assessing QOL in this particular group of patients. METHODS: Adults with syndromic craniosynostosis treated by the same surgeons underwent Whittaker Classification for facial difference by an independent observer...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27418250/the-ophthalmic-sequelae-of-pfeiffer-syndrome-and-the-long-term-visual-outcomes-after-craniofacial-surgery
#14
Neharika Sharma, Timothy Greenwell, Michael Hammerton, David J David, Dinesh Selva, Peter J Anderson
BACKGROUND: Pfeiffer syndrome is a rare, genetic condition characterized by craniosynostosis and midface hypoplasia, with resultant ophthalmic sequelae. The gold standard of treatment is fronto-orbital advancement. We analyzed a large database of Pfeiffer syndrome patients to report the rate of ophthalmic sequelae and the long-term visual outcomes after craniofacial surgery and to compare Pfeiffer syndrome to other craniosynostosis syndromes. METHODS: The medical records of Pfeiffer syndrome patients examined between 1988 and 2010 were examined retrospectively...
August 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27380568/apert-syndrome-outcomes-from-the-australian-craniofacial-unit-s-birth-to-maturity-management-protocol
#15
David J David, Peter Anderson, Walter Flapper, Jonathan Syme-Grant, Steven Santoreneos, Mark Moore
The complex, progressive, multisystem nature of Apert syndrome presents many challenges to managing surgeons. Based on the pioneering work of Paul Tessier, the senior author developed a multidisciplinary birth to maturity management protocol for Apert syndrome. Between 1975 and 2014 the Australian Craniofacial Unit has treated 174 Apert syndrome patients and 28 have completed full protocol management. This paper reviews the scientific contribution made to the management of Apert syndrome by the Australian Craniofacial Unit, the development and evolution of the protocol and presents comprehensive data on the surgical and nonsurgical craniofacial interventions, and outcomes for the 28 patients who have completed the programme; 26 had normal visual acuity, 22 had normal hearing, 20 achieved normal or nearly normal speech, 24 a functional class I occlusion, 18 completed mainstream schooling of whom at least 8 went on to tertiary education, at least 13 gained employment and 15 developed good social groups...
July 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27378001/apert-syndrome-surgical-outcomes-and-perspectives
#16
Omar Breik, Antony Mahindu, Mark H Moore, Cindy J Molloy, Stephen Santoreneos, David J David
PURPOSE: Apert syndrome is a rare congenital malformation with severe craniofacial anomalies. The aim of this study was to review the outcomes of craniofacial and neurosurgical interventions in Apert syndrome patients treated at a single institution. MATERIALS AND METHODS: A retrospective review of all patient records with a diagnosis of Apert syndrome assessed and managed in the Australian Craniofacial Unit (ACFU) from 1985 to 2013 was conducted. RESULTS: A total of 94 patients were identified, and 130 transcranial procedures were performed...
September 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27339175/cell-type-dependent-nonspecific-fibroblast-growth-factor-signaling-in-apert-syndrome
#17
Erika Yeh, Rodrigo Atique, Roberto Dalto Fanganiello, Daniele Yumi Sunaga, Felipe Augusto André Ishiy, Maria Rita Passos-Bueno
Apert Syndrome (AS) is one of the most severe forms of craniosynostosis. It is caused by gain-of-function mutations in the receptor fibroblast growth factor receptor 2 (FGFR2), which leads to ligand-receptor promiscuity. Here, we aimed to better understand the behavior of mesenchymal stem cells (MSCs) and of fibroblastoid cells, cellular populations that are part of the suture complex, when stimulated with different fibroblast growth factors (FGFs). We also aimed to verify whether FGFR2 specificity loss due to AS mutations would change their signaling behavior...
August 15, 2016: Stem Cells and Development
https://www.readbyqxmd.com/read/27323706/ectrodactyly-and-lethal-pulmonary-acinar-dysplasia-associated-with-homozygous-fgfr2-mutations-identified-by-exome-sequencing
#18
Christopher P Barnett, Nathalie J Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K Lee, Damien L Bruno, Jill Lipsett, Andrew J McPhee, Andreas W Schreiber, Jinghua Feng, Christopher N Hahn, Hamish S Scott
Ectrodactyly/split hand-foot malformation is genetically heterogeneous with more than 100 syndromic associations. Acinar dysplasia is a rare congenital lung lesion of unknown etiology, which is frequently lethal postnatally. To date, there have been no reports of combinations of these two phenotypes. Here, we present an infant from a consanguineous union with both ectrodactyly and autopsy confirmed acinar dysplasia. SNP array and whole-exome sequencing analyses of the affected infant identified a novel homozygous Fibroblast Growth Factor Receptor 2 (FGFR2) missense mutation (p...
September 2016: Human Mutation
https://www.readbyqxmd.com/read/27250821/syndromes-with-supernumerary-teeth
#19
REVIEW
Mark Lubinsky, Piranit Nik Kantaputra
While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27240504/prevention-and-management-of-hearing-loss-in-syndromic-craniosynostosis-a-case-series
#20
Elisa Biamino, Andrea Canale, Michelangelo Lacilla, Annalisa Marinosci, Federico Dagna, Lorenzo Genitori, Paola Peretta, Margherita Silengo, Roberto Albera, Giovanni Battista Ferrero
OBJECTIVE: To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis. METHODS: Eleven children with Apert syndrome (n=4), Saethre-Chotzen syndrome (n=3), Muenke syndrome (n=2), Crouzon syndrome (n=1) and Pfeiffer syndrome type 1 (n=1) were submitted to a complete audiologic evaluation including otoscopy, pure-tone audiometry, tympanometry and acoustic reflex testing, ABR, otoacustic emissions, temporal bone High Resolution CT (HRCT) scan...
June 2016: International Journal of Pediatric Otorhinolaryngology
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