Literature DB >> 10815580

Dental findings in three siblings with Morquio's syndrome.

I Rølling1, N Clausen, B Nyvad, S Sindet-Pedersen.   

Abstract

Three siblings with Morquo's syndrome are described. Cultured fibroblasts from the youngest sibling demonstrated a total absence of N-acethylgalactosamine-6-sulphate-sulphatase whereas beta-galactocidase activity was normal, thus verifying the diagnosis of MPS-IV A. Dental features such as pointed cusps, spade-shaped incisors, thin enamel and pitted buccal surfaces were observed in all three children. Furthermore, in all three siblings the TMJ was affected with severe resorption of the head of the condyle. Histological examination of exfoliated primary molars showed a band of increased porosity following the striae of Retzius in the outer part of the enamel. These developmental disturbances were occasionally associated with minor localized defects in the enamel surface. The importance of close monitoring of dental development and regular dental care in order to prevent attrition of the teeth, loss of vertical face height and subsequent risk of TMJ dysfunction is emphasized.

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Year:  1999        PMID: 10815580     DOI: 10.1046/j.1365-263x.1999.00127.x

Source DB:  PubMed          Journal:  Int J Paediatr Dent        ISSN: 0960-7439            Impact factor:   3.455


  8 in total

1.  The oral health needs of children, adolescents and young adults affected by a mucopolysaccharide disorder.

Authors:  Alison James; Christian J Hendriksz; Owen Addison
Journal:  JIMD Rep       Date:  2011-09-06

2.  Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study.

Authors:  Renata Quirino de Almeida-Barros; Paula Frassinetti Vasconcelos de Medeiros; Marcella Quirino de Almeida Azevedo; Adriana de Oliveira Lira Ortega; Angela Toshie Araki Yamamoto; Sheyla Kátia Lúcio Dornelas; Patrícia Meira Bento
Journal:  Clin Oral Investig       Date:  2017-03-19       Impact factor: 3.573

3.  Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study.

Authors:  Till Koehne; Anja Köhn; Reinhard E Friedrich; Uwe Kordes; Thorsten Schinke; Nicole Muschol; Bärbel Kahl-Nieke
Journal:  Clin Oral Investig       Date:  2017-10-18       Impact factor: 3.573

4.  Enamel defects and salivary methylmalonate in methylmalonic acidemia.

Authors:  C W Bassim; J T Wright; J P Guadagnini; R Muralidharan; J Sloan; D L Domingo; C P Venditti; T C Hart
Journal:  Oral Dis       Date:  2009-01-09       Impact factor: 3.511

Review 5.  Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

Authors:  Christian J Hendriksz; Maisoon Al-Jawad; Kenneth I Berger; Sara M Hawley; Rebecca Lawrence; Ciarán Mc Ardle; C Gail Summers; Elizabeth Wright; Elizabeth Braunlin
Journal:  J Inherit Metab Dis       Date:  2012-02-23       Impact factor: 4.982

Review 6.  International guidelines for the management and treatment of Morquio A syndrome.

Authors:  Christian J Hendriksz; Kenneth I Berger; Roberto Giugliani; Paul Harmatz; Christoph Kampmann; William G Mackenzie; Julian Raiman; Martha Solano Villarreal; Ravi Savarirayan
Journal:  Am J Med Genet A       Date:  2014-10-24       Impact factor: 2.802

7.  Morquio's Syndrome: A Case Report of Two Siblings.

Authors:  Sathish Muthukumar Ramalingam; Daya Srinivasan; Sandhya ArunKumar; Joe Louis ChiriyanKandath; Sriram Kaliamoorthy
Journal:  Case Rep Dent       Date:  2017-01-16

8.  A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Authors:  Megana K Prasad; Véronique Geoffroy; Serge Vicaire; Bernard Jost; Michael Dumas; Stéphanie Le Gras; Marzena Switala; Barbara Gasse; Virginie Laugel-Haushalter; Marie Paschaki; Bruno Leheup; Dominique Droz; Amelie Dalstein; Adeline Loing; Bruno Grollemund; Michèle Muller-Bolla; Séréna Lopez-Cazaux; Maryline Minoux; Sophie Jung; Frédéric Obry; Vincent Vogt; Jean-Luc Davideau; Tiphaine Davit-Beal; Anne-Sophie Kaiser; Ute Moog; Béatrice Richard; Jean-Jacques Morrier; Jean-Pierre Duprez; Sylvie Odent; Isabelle Bailleul-Forestier; Monique Marie Rousset; Laure Merametdijan; Annick Toutain; Clara Joseph; Fabienne Giuliano; Jean-Christophe Dahlet; Aymeric Courval; Mustapha El Alloussi; Samir Laouina; Sylvie Soskin; Nathalie Guffon; Anne Dieux; Bérénice Doray; Stephanie Feierabend; Emmanuelle Ginglinger; Benjamin Fournier; Muriel de la Dure Molla; Yves Alembik; Corinne Tardieu; François Clauss; Ariane Berdal; Corinne Stoetzel; Marie Cécile Manière; Hélène Dollfus; Agnès Bloch-Zupan
Journal:  J Med Genet       Date:  2015-10-26       Impact factor: 6.318

  8 in total

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