Literature DB >> 11598609

Pierre Robin sequence: a series of 117 consecutive cases.

M Holder-Espinasse1, V Abadie, V Cormier-Daire, C Beyler, Y Manach, A Munnich, S Lyonnet, G Couly, J Amiel.   

Abstract

A series of 117 cases of Pierre Robin Sequence are classified as isolated (48%), syndromic (35%), and with associated anomalies (17%); the latter group had a poor long-term prognosis. In isolated Pierre Robin Sequence, familial cases and a high incidence of twins were noted. Among syndromic Pierre Robin Sequence, 4 syndromes represent more than 50% of the diagnoses.

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Year:  2001        PMID： 11598609     DOI： 10.1067/mpd.2001.117784

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  24 in total

1.  Neonatal mandibular distraction osteogenesis.

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2.  Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.

Authors:  Jessie X Xu; Nicky Kilpatrick; Naomi L Baker; Anthony Penington; Peter G Farlie; Tiong Yang Tan
Journal:  Mol Syndromol       Date:  2016-09-15

Review 3.  Robin sequence: from diagnosis to development of an effective management plan.

Authors:  Kelly N Evans; Kathleen C Sie; Richard A Hopper; Robin P Glass; Anne V Hing; Michael L Cunningham
Journal:  Pediatrics       Date:  2011-04-04       Impact factor: 7.124

4.  A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters.

Authors:  David A Stevenson; John C Carey
Journal:  Am J Med Genet A       Date:  2007-10-01       Impact factor: 2.802

5.  Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Authors:  Sabina Benko; Judy A Fantes; Jeanne Amiel; Dirk-Jan Kleinjan; Sophie Thomas; Jacqueline Ramsay; Negar Jamshidi; Abdelkader Essafi; Simon Heaney; Christopher T Gordon; David McBride; Christelle Golzio; Malcolm Fisher; Paul Perry; Véronique Abadie; Carmen Ayuso; Muriel Holder-Espinasse; Nicky Kilpatrick; Melissa M Lees; Arnaud Picard; I Karen Temple; Paul Thomas; Marie-Paule Vazquez; Michel Vekemans; Hugues Roest Crollius; Nicholas D Hastie; Arnold Munnich; Heather C Etchevers; Anna Pelet; Peter G Farlie; David R Fitzpatrick; Stanislas Lyonnet
Journal:  Nat Genet       Date:  2009-02-22       Impact factor: 38.330

6.  Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

Authors:  Linda P Jakobsen; Reinhard Ullmann; Steen B Christensen; Karl Erik Jensen; Kirsten Mølsted; Karen F Henriksen; Claus Hansen; Mary A Knudsen; Lars A Larsen; Niels Tommerup; Zeynep Tümer
Journal:  J Med Genet       Date:  2007-06       Impact factor: 6.318

7.  Multiple tissue-specific requirements for the BMP antagonist Noggin in development of the mammalian craniofacial skeleton.

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Journal:  Dev Biol       Date:  2014-06-17       Impact factor: 3.582

8.  Pierre Robin Sequence: Cost-Analysis and Qualitative Assessment of 89 Patients at the Hospital for Sick Children.

Authors:  Matthew Lee; Emily S Ho; Christopher R Forrest
Journal:  Plast Surg (Oakv)       Date:  2018-04-24       Impact factor: 0.947

9.  Pierre robin sequence and the pediatric dentist.

Authors:  B N Rangeeth; Joyson Moses; N Venugopal Reddy
Journal:  Contemp Clin Dent       Date:  2011-07

10.  The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

Authors:  Ana Carolina S Fonseca; Adriano Bonaldi; Débora R Bertola; Chong A Kim; Paulo A Otto; Angela M Vianna-Morgante
Journal:  BMC Med Genet       Date:  2013-05-07       Impact factor: 2.103
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