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162 results
  • Factors influencing different types of malocclusion and arch form-A review. [Journal Article]
    J Stomatol Oral Maxillofac Surg. 2020 Jul 10 [Online ahead of print]Saghiri MA, Eid J, … Freag P
  • CONCLUSIONS: Genetic inheritance, genetic mutations, age, gender, ethnicity, dental anomalies like macrodontia, congenital diseases, muscular diseases, hormone imbalance, and human behaviour are all factors that influence malocclusion and arch forms. The elements within the individual's control like behaviours can aid in preventing malocclusion. However, it seems as if the underlying reason for most of these factors indicates that malocclusion is a by-product of genetics and pathology.
  • KBG syndrome in two patients from Egypt. [Case Reports]
    Am J Med Genet A. 2020 06; 182(6):1309-1312.Sayed ISM, Abdel-Hamid MS, Abdel-Salam GMH
  • KBG syndrome is an intellectual disability (ID) associated with multiple congenital anomalies in which the macrodontia could be the clue for the diagnosis. It is caused either by heterozygous variant in ANKRD11 gene or 16q24.3 microdeletions that involve the ANKRD11 gene. Here, we report on two unrelated male patients who presented with ID, short stature, webbing of neck, and cryptorchidism. Noon…
  • Macrodontia Associated with Mandibular Distraction Osteogenesis. [Case Reports]
    J Dent Child (Chic). 2020 Jan 15; 87(1):48-52.Herring ME, Lee C, … Hajishengallis E
  • Infants diagnosed with Pierre Robin sequence frequently have airway obstruction. In severe cases of obstruction, mandibular distraction osteogenesis (MDO) can alleviate the airway blockage through elongation of the mandible and subsequent anterior placement of the tongue. However, there are several complications associated with MDO in the very young child. Among those are injuries to teeth that d…
  • KBG syndrome: Common and uncommon clinical features based on 31 new patients. [Journal Article]
    Am J Med Genet A. 2020 05; 182(5):1073-1083.Gnazzo M, Lepri FR, … Digilio MC
  • KBG syndrome (MIM #148050) is an autosomal dominant disorder characterized by developmental delay, intellectual disability, distinct craniofacial anomalies, macrodontia of permanent upper central incisors, skeletal abnormalities, and short stature. This study describes clinical features of 28 patients, confirmed by molecular testing of ANKRD11 gene, and three patients with 16q24 deletion encompas…
  • Novel Mutations and Unreported Clinical Features in KBG Syndrome. [Case Reports]
    Mol Syndromol. 2019 May; 10(3):130-138.Scarano E, Tassone M, … Mazzanti L
  • KBG syndrome is an autosomal dominant disorder caused by pathogenic variants within ANKRD11 or deletions of 16q24.3 which include ANKRD11. It is characterized by distinctive facial features, developmental delay, short stature, and skeletal anomalies. We report 12 unrelated patients where a clinical diagnosis of KBG was suspected and confirmed by targeted analyses. Nine patients showed a point mut…
  • SATB2-associated syndrome in patients from Japan: Linguistic profiles. [Case Reports]
    Am J Med Genet A. 2019 06; 179(6):896-899.Yamada M, Uehara T, … Kosaki K
  • Cleft palate can be classified as either syndromic or nonsyndromic. SATB2-associated syndrome is one example of a syndromic cleft palate that is accompanied by intellectual disability, and various dental anomalies. SATB2-associated syndrome can be caused by several different molecular mechanisms including intragenic mutations and deletions of SATB2. Here, we report two patients with SATB2 truncat…
  • Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report. [Case Reports]
    BMC Med Genet. 2019 01 14; 20(1):16.Alves RM, Uva P, … Crisponi L
  • CONCLUSIONS: This report describe a novel de novo variant in ANKRD11 causing a mild phenotype of KGB syndrome and further supports the association of monogenic pattern of SCN9A mutations with GEFS+. Our data expand the allelic spectrum of ANKRD11 mutations, providing the first Brazilian case of KBG syndrome. Furthermore, this study offers an example of how WES has been instrumental allowing us to better dissect the clinical phenotype under study, which is a multilocus variation aggregating in one proband, rather than a phenotypic expansion associated with a single genomic locus, underscoring the role of multiple rare variants at different loci in the etiology of clinical phenotypes making problematic the diagnostic path. The successful identification of the causal variant in a gene may not be sufficient, making it necessary to identify other variants that fully explain the clinical picture. The prevalence of blended phenotypes from multiple monogenic disorders is currently unknown and will require a systematic re-analysis of large WES datasets for proper diagnosis in daily practice.
  • A case of multiple dental anomalies: a variant of Ekman-Westborg-Julin trait. [Case Reports]
    Eur Oral Res. 2018 Jan; 52(1):62-66.Çolakoğlu G, Kazak M, … Bedeloğlu E
  • Simultaneous occurrence of multiple dental anomalies is relatively common and has been reported particularly in cases with systemic alterations or syndromes. However, in 1974, Ekman-Westborg and Julin described a unique case of multiple macrodontia and multituberculism of posterior teeth accompanied by multiple dental malformations without other systemic anomalies. Here we report the case of a 20…
  • Radiculomegaly of canines in oculofaciocardiodental syndrome. [Case Reports]
    Oral Radiol. 2019 09; 35(3):326-330.Oh SH, Kang JH, … Hwang EH
  • Oculofaciocardiodental (OFCD) syndrome is a rare genetic disease, first reported by Hayward in 1980. This syndrome presents with various ocular, facial, cardiac, and dental symptoms, including congenital cataract, dysmorphic facial features, congenital heart disease, and enlarged roots, respectively. The most important criteria for the diagnosis of OFCD syndrome are dental abnormalities, especial…
  • Maxillomandibular giant osteosclerotic lesions. [Journal Article]
    J Appl Oral Sci. 2018 06 18; 26:e20170535.Ledesma-Montes C, Jiménez-Farfán MD, Hernández-Guerrero JC
  • CONCLUSIONS: GOLs must be differentiated from other radiopaque benign and malignant tumors. Condensing osteitis, was considered an anomalous osseous response induced by a chronic low-grade inflammatory stimulus. For development of idiopathic osteosclerosis, two possible mechanisms could be related. The first is modification of the normal turnover with excessive osseous deposition. The second mechanism will prevent the normal bone resorption, arresting the osseous breakdown process.
  • GeneReviews®: KBG Syndrome [BOOK]
    GeneReviews®. University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AMorel Swols D, Tekin MBOOK
  • KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disab…
  • [The first Danish patient with a recognisable genetic KBG syndrome]. [Case Reports]
    Ugeskr Laeger. 2018 Mar 12; 180(11)Bayat A, Møller LB, Hjortshøj TD
  • KBG syndrome is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement including global developmental delay, seizures, and intellectual disability. This is a case report of a seven-year-old boy, who presented with symptoms fulfilling the diagnostic criteria of KBG syndrome, molec…
  • A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. [Case Reports]
    Cold Spring Harb Mol Case Stud. 2018 06; 4(3)Koboldt DC, Mihalic Mosher T, … White P
  • Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencin…
  • KBG syndrome. [Review]
    Orphanet J Rare Dis. 2017 12 19; 12(1):183.Morel Swols D, Foster J, Tekin M
  • KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed bone age, and costovertebral anomalies; and developmental delay/intellectual disability sometimes associated with seizures and EEG abnormalities. The condition was…
  • Investigation of prevalence of dental anomalies by using digital panoramic radiographs. [Journal Article]
    Folia Morphol (Warsz). 2018; 77(2):323-328.Bilge NH, Yeşiltepe S, … Bilge OM
  • CONCLUSIONS: Anomalies of tooth position were the most common type of dental anomalies and structure anomalies were the least common in this Turkish po-pulation. The frequency and type of dental anomalies vary within and between populations, confirming the role of racial factors in the prevalence of dental ano-malies. Digital panoramic radiography is a very useful method for the detection of dental anomalies. (Folia Morphol 2018; 77, 2: 323-328).
  • Bilateral Second Premolars Agenesia Together with a Unilateral Canine Radiculomegaly. [Case Reports]
    Contemp Clin Dent. 2017 Jan-Mar; 8(1):151-154.Kemoli AM, Junior TM
  • Congenitally missing teeth is a common feature for the third molars. However, missing teeth, macrodontia and radiculomegaly occurring in a single patient is very rare. This article describes a case of agenesis of mandibular second premolars, radiculomegaly with dilacerations of a canine tooth together with elongated roots of other canines. All these features had been discerned through diagnostic …
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