H Hari Kishore Bhat, Venkatesh Anehosur, Varsha Haridas Upadya, Niranjan Kumar, Vijayanand Madhur
BACKGROUND: Cleft lip and/or palate (CL ± P) or isolated cleft palate (CP) are the most common congenital malformations of the face. Although there have been advances in prenatal diagnosis and the discovery of genetic markers, there has been no breakthrough in the identification of parents at risk of giving birth to a child with a cleft. AIMS: To determine a possible phenotypic difference in the craniofacial morphology of parents of children with CL ± P and to investigate whether cephalometric analysis can help identify parents at risk of giving birth to a child with a cleft...
December 7, 2022: Journal of Orofacial Orthopedics
Gabriela da Silva Lopes, Laís Guimarães, Eduarda Nascimento, Deborah Q Freitas, Iêda Rebello, Alena P Medrado, Ricardo D Coletta, Silvia R A Reis
OBJECTIVE: This study assesses the degree of root curvature in patients with non-syndromic cleft lip and/or palate (NSCL/P). DESIGN: Retrospective. Case-control study. SETTING: Root curvature was assessed in lower premolars and molars in 800 panoramic radiographs: 400 from patients with cleft and 400 from healthy control individuals. Root curvature was classified according to its angulation, as well as its apical, medial, or coronal localization...
December 7, 2022: Cleft Palate-craniofacial Journal
Leah Hanley, Kirrie J Ballard, Alicia Dickson, Alison Purcell
PURPOSE: This is a pilot study to apply an articulatory kinematic speech intervention that uses the principles of motor learning (PML) to improve speech and resonance outcomes for children with cleft palate. It is hypothesized that (a) treatment that applies select PML during practice will improve production of treated phonemes, representing both active and inconsistent passive errors, at word level in children with cleft palate; (b) effects of practice on phonemes with active or inconsistent passive errors will generalize to untreated exemplars of treated phonemes; and (c) learning will be retained for at least 1-month posttreatment...
December 7, 2022: American Journal of Speech-language Pathology
Lakshmi Kollara, Samantha L Reiss, Sreekara Singam, Brian Kellogg
Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS...
December 6, 2022: Cleft Palate-craniofacial Journal
Sakshi Kabra, Nilima R Thosar, Monika Khubchandani
Ankyloglossia or tongue-tie is caused by an excessively short, thick lingual frenum that restricts the normal movements and functions of the tongue. It has a higher prevalence in infants than in children and adults. In the present case, a six-year-old male came with his parents with a chief complaint of difficulty in speech. His medical history revealed that he had a congenital cleft lip and cleft palate, for which he had undergone surgery soon after his birth. He was categorized by Kotlow classification as Class II (moderate ankyloglossia)...
November 2022: Curēus
Faraja Mussa Magwesela, Happiness Rabiel, Catherine Mlelwa Mung'ong'o
BACKGROUND: Congenital anomalies are major causes of morbidity and mortality in children under 5 years of age and make a significant contribution to the surgical burden of diseases. Most anomalies have multifactorial causes and commonly affect the central nervous, cardiovascular, gastrointestinal and musculoskeletal systems. Countries with improved pediatric surgical care have shown dramatic reductions in morbidity and mortality rates. The aim of this study was to analyze the pattern of congenital anomalies presenting in our surgical departments in patients under 5 years of age...
2022: World journal of pediatric surgery
Mohammed Farid, Louise Cafferky, Jeremy Kirk, Melanie Kershaw, Rona Slator
OBJECTIVES: Published literature on children with cleft palate and/or lip (CP + /-L) and CHARGE syndrome (CS) is limited. This study investigated cleft characteristics including surgery, and feeding and communication outcomes in children identified with CP + /-L and CS. DESIGN: Retrospective cross-sectional review. SETTING: Regional Referral Centre for Paediatric Cleft Surgery. PATIENTS: All children diagnosed with CP + /-L and CS (based on clinical features and/or CHD7 mutation testing) between 1989-2019...
December 5, 2022: Cleft Palate-craniofacial Journal
Nina Ishorst, Leonie Henschel, Frederic Thieme, Dmitriy Drichel, Sugirthan Sivalingam, Sarah L Mehrem, Ariane C Fechtner, Julia Fazaal, Julia Welzenbach, André Heimbach, Carlo Maj, Oleg Borisov, Jonas Hausen, Ruth Raff, Alexander Hoischen, Michael Dixon, Alvaro Rada-Iglesias, Michaela Bartusel, Augusto Rojas-Martinez, Khalid Aldhorae, Bert Braumann, Teresa Kruse, Christian Kirschneck, Gerrit Spanier, Heiko Reutter, Stefanie Nowak, Lina Gölz, Michael Knapp, Andreas Buness, Peter Krawitz, Markus M Nöthen, Michael Nothnagel, Tim Becker, Kerstin U Ludwig, Elisabeth Mangold
BACKGROUND: Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome-wide significant risk loci, which explain less than 40% of nsCL/P heritability. Studies show that some of the hidden heritability is explained by rare penetrant variants. METHODS: To identify new candidate genes, we searched for highly penetrant de novo variants (DNVs) in 50 nsCL/P patient/parent-trios with a low polygenic risk for the phenotype (discovery)...
December 5, 2022: Molecular Genetics & Genomic Medicine
Corinna L Seidel, Elena Percivalle, Marco Tschaftari, Matthias Weider, Karin Strobel, Ines Willershausen, Christoph Unertl, Helga M Schmetzer, Manuel Weber, Michael Schneider, Benjamin Frey, Udo S Gaipl, Matthias W Beckmann, Lina Gölz
Orofacial clefts (OFC) are frequent congenital malformations characterized by insufficient separation of oral and nasal cavities and require presurgical infant orthopedics and surgical interventions within the first year of life. Wound healing disorders and higher prevalence of gingivitis and plaque levels are well-known challenges in treatment of children with OFC. However, oral inflammatory mediators were not investigated after birth using non-invasive sampling methods so far. In order to investigate the impact of OFC on oral cytokine levels, we collected tongue smear samples from 15 neonates with OFC and 17 control neonates at two time points (T), T0 at first consultation after birth, and T1, 4 to 5 weeks later...
2022: Frontiers in Immunology
Teagan Fink, Nicky Kilpatrick, David Chong, Tony Penington
OBJECTIVES: to audit the surgical management of infants born with non-syndromic cleft lip and palate (CLP) at an Australian cleft unit in a large tertiary paediatric hospital. DESIGN: Retrospective cohort study. SETTING: A tertiary Cleft centre. PATIENTS: 193 infants born with non-syndromic CLP were referred to the centre and underwent primary repair of their CLP between 2009 and 2020.Main Outcome Measures: (1) The timing and surgical repairs performed; (2) the frequency of postoperative complications; (3) the frequency of secondary Cleft surgery; and (4) the total Cleft-related operations performed for infants born with CLP...
December 4, 2022: Cleft Palate-craniofacial Journal
Christy M McKinney, Kiley Bijlani, Anna Faino, Kelly N Evans, Mariah Kassuhn, Josie L Griffin, Carrie L Heike
OBJECTIVE(S): To estimate nutritional status in a large cohort of infants with orofacial clefts in the US, overall and by cleft type from birth to 6 months of age. STUDY DESIGN: We conducted a cross-sectional study in infants with orofacial clefts by examining growth by month between birth and 6 months of age. Infants with at least one weight measurement at a single US regional tertiary care pediatric hospital with an interdisciplinary cleft team between 2010 and 2020 were included...
November 30, 2022: Journal of Pediatrics
Ludovica Parisi, Carolin Mockenhaupt, Silvia Rihs, Farah Mansour, Christos Katsaros, Martin Degen
Interferon Regulatory Factor 6 (IRF6) and Grainyhead Like Transcription Factor 3 (GRHL3) are transcription factors that orchestrate gene regulatory networks required for the balance between keratinocyte differentiation and proliferation. Absence of either protein results in the lack of a normal stratified epidermis with keratinocytes failing to stop proliferating and to terminally differentiate. Numerous pathological variants within IRF6 and GRHL3 have been identified in orofacial cleft-affected individuals and expression of the two transcription factors has been found to be often dysregulated in cancers...
2022: Frontiers in Oncology
Eloise Stanton, Samuel Sheridan, Mark Urata, Yang Chai
OBJECTIVE: To provide a comprehensive understanding of the pathophysiology of cleft palate (CP) and future perspectives. DESIGN: Literature review. SETTING: Setting varied across studies by level of care and geographical locations. INTERVENTIONS: No interventions were performed. MAIN OUTCOME MEASURE(S): Primary outcome measures were to summarize our current understanding of palatogenesis in humans and animal models, the pathophysiology of CP, and potential future treatment modalities...
December 1, 2022: Cleft Palate-craniofacial Journal
A K Sander, E Grau, A K Bartella, A Kloss-Brandstätter, M Neuhaus, R Zimmerer, B Lethaus
BACKGROUND: Orofacial clefts are characterized by a frequent occurrence of dental anomalies. Numerous studies demonstrate the high prevalence of dental aplasia, supernumerary teeth, and hypoplastic teeth in patients with cleft lip with/without cleft palate (CL/P), yet the therapeutic consequences are rarely discussed. This study explores prevalence, localization, and association between primary and secondary dentition in a large European collective and begins to evaluate the significance of dental anomalies in the therapeutic course of patients with CL/P...
December 1, 2022: BMC Oral Health
Anthony de Buys Roessingh, Yohann Robert, Josée Despars, Chantal Zbinden-Trichet, Georges Herzog, Martin Broome, Oumama El Ezzi
To review at 18 years-old the results of surgery and follow-up of children born in our hospital with unilateral cleft lip and palate (uCLP). They were operated at the time by the same surgeon, following the same primary surgical procedure (Malek). Retrospective cohort study. Tertiary Children's Hospital. All children born with uCLP between 1996 and 2001 and operated in our hospital. Syndromic children were excluded. Results of the primary surgery, ear-nose-throat interventions, maxillo-facial surgery and final phonatory results...
December 1, 2022: Cleft Palate-craniofacial Journal
Sharayu Vinod Nimonkar, Vikram Murlidhar Belkhode
No abstract text is available yet for this article.
2022: Pan African Medical Journal
Jamie L Perry, Taylor D Snodgrass, Imani R Gilbert, Bradley P Sutton, Adriane L Baylis, Erica M Weidler, Raymond W Tse, Stacey L Ishman, Thomas J Sitzman
Traditional imaging modalities used to assess velopharyngeal insufficiency (VPI) do not allow for direct visualization of underlying velopharyngeal (VP) structures and musculature which could impact surgical planning. This limitation can be overcome via structural magnetic resonance imaging (MRI), the only current imaging tool that provides direct visualization of salient VP structures. MRI has been used extensively in research; however, it has had limited clinical use. Factors that restrict clinical use of VP MRI include limited access to optimized VP MRI protocols and uncertainty regarding how to interpret VP MRI findings...
November 30, 2022: Cleft Palate-craniofacial Journal
Eloise Stanton, Katelyn Kondra, Christian Jimenez, Pasha Shakoori, Stephen Yen, Mark M Urata, Jeffrey A Hammoudeh, William P Magee
OBJECTIVE: The aim of this study is to evaluate surgical outcomes and maxillofacial growth in patients undergoing primary lip repair with or without premaxillary setback. DESIGN: Retrospective review. SETTING: Children's Hospital of Los Angeles, California. PATIENTS AND PARTICIPANTS: Patients with bilateral cleft lip  ±  palate (BCLP) who underwent lip repair with or without premaxillary setback from January 1975 to September 2021...
November 29, 2022: Cleft Palate-craniofacial Journal
Prabha Rashmi Lakra, Pooja Thaware, Bharati
BACKGROUND: Children with cleft palate are usually operated on before 18 months of age. Cleft palate surgery demands stable hemodynamic parameters, a bloodless surgical field, and an awake and pain-free child after surgery. AIMS: We aimed to study the anesthesia technique using buprenorphine and propofol for cleft palate surgery. SETTINGS AND DESIGN: The design involves prospective observational study. The study was conducted at a tertiary care hospital...
2022: Anesthesia, Essays and Researches
Cibelle Cristina Oliveira Dos Santos, Renata Travassosda Rosa Moreira Bastos, David Normando
OBJECTIVE: The aim of this systematic review was to elucidate the role of orthodontic retainers on the stability of compensatory orthodontic treatment in patients with unilateral cleft lip and palate. METHODS: Five electronic databases (PubMed, Scopus, Web of Science, LILACS, and LIVIVO) and the grey literature (OpenGrey and Google Scholar) were investigated, according to the population, exposure, comparator, outcomes and Study design eligibility criterion. The risk of bias assessment was determined based on the Risk of Bias In Nonrandomized Studies of Exposure (ROBINS-E) and the level of evidence with the GRADE tool...
November 28, 2022: Cleft Palate-craniofacial Journal
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