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https://www.readbyqxmd.com/read/28548707/phenotypes-and-genotypes-in-individuals-with-smc1a-variants
#1
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Alice Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valerie Cormier-Daire, Matthew A Deardorff, Karin Diderich, Mariet Elting, Anthonie van Essen, David Fitz Patrick, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Katta M Girisha, Yvonne Hilhorst-Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Jo Moss, Sarah E Noon, Chris Oliver, Ilaria Parenti, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara L Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C Hennekam
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype...
May 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28545771/efficacy-of-proportional-condylectomy-in-a-treatment-protocol-for-unilateral-condylar-hyperplasia-a-review-of-73-cases
#2
Guillaume Mouallem, Zahia Vernex-Boukerma, Julie Longis, Jean-Philippe Perrin, Jean Delaire, Jacques-Marie Mercier, Pierre Corre
INTRODUCTION: Unilateral condylar hyperplasia (UCH) is characterized by an excessive growth of a mandibular condyle, resulting in facial, and occlusal deformities. Scintigraphic hyperactivity usually triggers the need of condylectomy. Delaire has presented a protocol for the treatment of active or non-active UCH using systematically a proportional condylectomy, which could solve both aetiology and adaptive deformities. The aim of this study was to evaluate this protocol by clinical and radiographical analysis...
April 21, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28544538/cornelia-de-lange-syndrome-to-diagnose-or-not-to-diagnose-in-utero
#3
REVIEW
Laura Avagliano, Gaetano Pietro Bulfamante, Valentina Massa
Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544239/a-novel-variant-in-med12-gene-further-delineation-of-phenotype
#4
Dhanya L Narayanan, Shubha R Phadke
MED12 is a multiprotein mediator complex, which has a role in cell growth and differentiation and has been implicated in three distinct X-linked intellectual disability syndromes with distinctive clinical features. These include Opitz-Kaveggia syndrome (FG syndrome), Lujan syndrome, and X-linked Ohdo syndrome. Recently MED12 variants have been implicated in isolated X-linked intellectual disability. We describe a 5-year-old male patient with intellectual disability and facial dysmorphism and a novel variant in MED12 gene identified by Whole Exome Sequencing...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28543709/acral-plexiform-palisaded-encapsulated-neuromas-as-the-initial-cutaneous-manifestation-of-cowden-syndrome
#5
Elizabeth Harris, Adnan Mir
Cowden syndrome (CS) is an autosomal dominant genodermatosis associated with characteristic mucocutaneous findings of facial trichilemmomas, palmoplantar keratoses, sclerotic fibromas, and oral papillomas. Mucocutaneous neuromas have also been reported in association with CS. We describe a patient with CS whose sole cutaneous finding was palisaded encapsulated neuromas (PENs) with a plexiform growth pattern in an acral location. Along with previous reports, this case suggests that acral plexiform PENs may be an early, highly specific finding in CS and highlights the importance of screening these patients for PTEN mutation...
May 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28542865/disruption-of-ywhae-gene-at-17p13-3-causes-learning-disabilities-and-brain-abnormalities
#6
Abdul Noor, Simina Bogatan, Nicholas Watkins, Wendy S Meschino, Dimitri J Stavropoulos
There is a broad phenotypic spectrum of patients with 17p13.3 deletions. One of the most prominent features is lissencephaly caused by haploinsufficiency of the gene PAFAH1B1. The deletion of this gene and those distal to it, results in Miller-Dieker syndrome, however there have been many reports of patients with haploinsufficiency of the distal genes alone. The deletions of these genes including YWHAE, CRK and TUSC5 have been studied extensively and YWHAE has been postulated to be the cause of neurological abnormalities...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28529420/long-pulsed-nd-yag-laser-and-intense-pulse-light-755-nm-for-idiopathic-facial-hirsutism-a-comparative-study
#7
Arpit Shrimal, Souvik Sardar, Soumyajit Roychoudhury, Somenath Sarkar
BACKGROUND: Hirsutism means excessive terminal hair growth in a female in male pattern distribution. Perception of hirsutism is subjective. Permanent laser hair reduction is a slow process taking many sessions and tracking of improvement parameters is tedious. Hence, a lot of confusion still exists regarding the type of laser most beneficial for treatment. AIM: The aim of this study was to compare the effectiveness and safety profile of long-pulsed Nd: YAG laser (1064 nm) and intense pulse light (IPL)-755 nm in management of idiopathic facial hirsutism...
January 2017: Journal of Cutaneous and Aesthetic Surgery
https://www.readbyqxmd.com/read/28524272/frontal-sinus-development-and-juvenile-age-estimation
#8
Kaitlin Moore, Ann Ross
Assessment of development is an important component of age estimation in juveniles. One area that has not been fully investigated as a possible aging method is the development of the frontal sinus. The frontal sinuses form when the ectocranial table of the frontal bone separates from the endocranial table forming an air pocket in the bone. The endocranial table ceases growth with the brain, while the ectocranial table is displaced anteriorly as the facial bones continue growth. In order to examine growth and the utility of the frontal sinuses for age estimation, 392 radiographs were examined (♀=159 and ♂=233) from the Juvenile Radiograph Database at North Carolina State University and the Patricia Database from Mercyhurst University...
May 19, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28521875/exome-sequencing-reveals-a-de-novo-pold1-mutation-causing-phenotypic-variability-in-mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome-mdpl
#9
Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre-Giovannoli
BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28521439/arteriovenous-malformation-and-thyroid-metastasis-from-underlying-renal-cell-carcinoma-an-unusual-presentation-of-malignancy-a-case-report
#10
H J Albandar, E S Roberto, J R H See, J H Sabiers
Renal Clear Cell Carcinoma (RCC) comprises over 80% of renal malignancies in adults. Thyroid gland metastasis is rare in RCC. Few studies have described cases of RCC mistaken for benign arteriovenous malformation (AVM). To the best of our knowledge, an AVM arising from underlying RCC metastasis to the brain has not yet been reported. The current study presents a case of RCC metastasis to the thyroid gland, with an AVM identified to be a result of metastatic involvement in the brain. A 45-year-old African-American female presented with left-sided weakness, slurred speech, facial droop and seizure...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28516364/preserving-normal-facial-nerve-function-and-improving-hearing-outcome-in-large-vestibular-schwannomas-with-a-combined-approach-planned-subtotal-resection-followed-by-gamma-knife-radiosurgery
#11
Roy Thomas Daniel, Constantin Tuleasca, Mercy George, Etienne Pralong, Luis Schiappacasse, Michele Zeverino, Raphael Maire, Marc Levivier
OBJECTIVE: To perform planned subtotal resection followed by gamma knife surgery (GKRS) in a series of patients with large vestibular schwannoma (VS), aiming at an optimal functional outcome for facial and cochlear nerves. METHODS: Patient characteristics, surgical and dosimetric features, and outcome were collected prospectively at the time of treatment and during the follow-up. RESULTS: A consecutive series of 32 patients was treated between July 2010 and June 2016...
May 17, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28509670/pediatric-nasal-surgery-timing-and-technique
#12
Celeste C Gary
PURPOSE OF REVIEW: Timing of pediatric nasal surgery has always been a controversial topic. Concern over disrupting growing parts of the face and causing permanent facial deformity has led to a primarily conservative approach. Many surgeons feel that it is prudent to wait until the patient has completed nasal growth after puberty to pursue nasal surgery. RECENT FINDINGS: Recently, this attitude has been challenged with evidence that not only is nasal surgery in the pediatric age group not a detriment to facial growth, but failure to correct significant nasal deformity may actually cause dysmorphic facial growth secondary to obligate mouth breathing...
May 13, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28504504/-cornelia-de-lange-syndrome-and-multiple-hormonal-deficiency-an-unusual-association-clinical-case
#13
Víctor M Mora-Bautista, Víctor Mendoza-Rojas, Gustavo A Contreras-García
Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28500832/combined-pituitary-hormone-deficiency-in-a-girl-with-48-xxxx-and-rathke-s-cleft-cyst
#14
Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C Han, Constantine A Stratakis
BACKGROUND: Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. METHODS/RESULTS: The patient was diagnosed with tetrasomy X by karyotyping during infancy. Brain MRI and multiple endocrine stimulation tests revealed RCC and combined pituitary hormone deficiency (growth hormone deficiency, secondary adrenal insufficiency and central hypothyroidism) likely due to RCC...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28499525/consecutive-cyproterone-acetate-and-estradiol-treatment-in-late-pubertal-transgender-female-adolescents
#15
Lloyd J W Tack, Robin Heyse, Margarita Craen, Karlien Dhondt, Heidi Vanden Bossche, Jolien Laridaen, Martine Cools
BACKGROUND: Cyproterone acetate (CA) is an antiandrogenic progestin commonly used in adult transwomen to suppress endogenous androgens, often in combination with estrogens to induce feminization. AIM: To assess the (side) effects and biochemical changes of CA alone and in combination with estrogens in adolescent trans-girls. METHODS: This study was a retrospective analysis of clinical and biochemical data from 27 trans-girls who presented at Tanner stage G4 and were treated with CA monotherapy for at least 6 months (mean = 12 months) and then in combination with incremental doses of estrogens (CA + E; mean = 16 months)...
May 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28496392/differences-in-the-management-of-pediatric-facial-trauma
#16
REVIEW
Tara L Braun, Amy S Xue, Renata S Maricevich
Craniofacial trauma is common in the pediatric population, with most cases limited to soft tissue and dentoalveolar injury. Although facial fractures are relatively rare in children compared with adults, they are often associated with severe injury and cause significant morbidity and disability. Initial evaluation of a child with facial trauma generally involves stabilizing the patient and identifying any severe concomitant injuries before diagnosing and managing facial injuries. The management of pediatric facial fractures is relatively more conservative than that of adults, and nonsurgical management is preferred when possible to prevent the disruption of future growth and development...
May 2017: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/28494601/relationship-between-oro-and-nasopharynx-permeability-and-the-direction-of-facial-growth
#17
P Fernandes, J Pinto, J Ustrell-Torrent
AIM: Most scientific literature relates vertical growth to individuals with decreased upper airway permeability. However, we often find subjects with a long face and a normal breathing pattern, most likely caused by other aetiological factors. And, frequently, we also find decreased upper airway permeability with horizontal growth. The aim of the study was to compare the cephalometric measurements of the oro and nasopharynx permeability with the facial growth direction and to identify the most common facial growth direction in individuals with decreased upper airway permeability...
March 2017: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28487042/recurrent-plexiform-schwannoma-involving-the-carotid-canal
#18
Kei Ijichi, Masahiro Muto, Ayako Masaki, Shingo Murakami
Plexiform schwannoma (PS) is a rare variety of benign nerve sheath tumor characterized by a multinodular plexiform growth pattern. PS is usually confined to the head and neck or skin. The pre-operative diagnosis of PS is difficult, and this has lead to a common misdiagnosis as a schwannoma. In addition, studies have indicated that an incomplete resection of PS often results in tumor recurrence. Here we describe a rare case of PS presented in the parapharyngeal space. Our case involved a 36-year-old man with swelling of the pharynx, who presented with a soft cervical mass...
May 6, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28480548/expanding-the-phenotypic-spectrum-of-truncating-pogz-mutations-association-with-cns-malformations-skeletal-abnormalities-and-distinctive-facial-dysmorphism
#19
Maria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, Sabina Barresi, Paola Bencivenga, Bruno Dallapiccola, Maria Cristina Digilio, Marco Tartaglia
Exome sequencing has led to the comprehension of the molecular bases of several forms of neurodevelopmental disorders, a clinically heterogeneous group of diseases characterized by intellectual disability (ID) and autism spectrum disorder (ASD). De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. Here we report on a 15 year-old girl in whom exome sequencing allowed to identify a de novo POGZ truncating mutation as the molecular cause underlying a complex phenotype apparently not fitting any recognized syndrome...
May 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28475091/relative-positional-change-of-a-dental-implant-in-the-esthetic-zone-after-12-years-a-case-report
#20
Maria Aparecida Neves Jardini, Camila Lopes Ferreira, Weber José Ursi, Antonio Braulino de Melo Filho, Mauro Pedrine Santamaria
Although the biological process of osseointegration is similar in adults and adolescents, implant placement is contraindicated in young patients until bone growth is complete. However, even in adults, significant craniofacial changes may occur over an individual's lifetime, as a result of discrete and continuous dental eruption, vertical soft tissue augmentation, or facial bone growth. After such changes, implants may be in infraocclusion. The present case report describes the long-term follow-up of a dental implant located in the esthetic zone...
May 2017: General Dentistry
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