Literature DB >> 12748800

Pierre-Robin syndrome associated with Chiari type I malformation.

Jangbo Lee1, Kazutoshi Hida, Toshitaka Seki, Jun Kitamura, Yosinobu Iwasaki.   

Abstract

CASE REPORT: Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the cerebellar tonsil was freed from strangulation. RESULT AND
CONCLUSION: This patient presented with the common finding between PRS and Chiari type I on the embryological aspect by illustrating pathophysiology of the Chiari I malformation. To our knowledge, this is the first reported case of PRS associated with Chiari malformation type I.

Entities:  

Mesh:

Year:  2003        PMID: 12748800     DOI: 10.1007/s00381-003-0740-2

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


  11 in total

1.  Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients.

Authors:  T H Milhorat; M W Chou; E M Trinidad; R W Kula; M Mandell; C Wolpert; M C Speer
Journal:  Neurosurgery       Date:  1999-05       Impact factor: 4.654

2.  Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability.

Authors:  M M Cohen
Journal:  Am J Med Genet       Date:  1999-06-04

3.  Anaplastic astrocytoma of an oncocytic type occurring in the cerebellar vermis in Pierre Robin syndrome--case report.

Authors:  S Tsunoda; T Sakaki; T Kubota; K Goda; M Nakamura; H Hashimoto; T Hoshida; T Morimoto
Journal:  Neurol Med Chir (Tokyo)       Date:  1992-11       Impact factor: 1.742

Review 4.  Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature.

Authors:  A P van den Elzen; B A Semmekrot; E M Bongers; P L Huygen; H A Marres
Journal:  Eur J Pediatr       Date:  2001-01       Impact factor: 3.183

5.  Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: further evidence indicating that chiari I malformation is a disorder of the paraaxial mesoderm. Case report and review of the literature.

Authors:  A H Mesiwala; C I Shaffrey; J S Gruss; R G Ellenbogen
Journal:  J Neurosurg       Date:  2001-12       Impact factor: 5.115

6.  Uncommon syndromes of cerebellar vermis aplasia. II: Tecto-cerebellar dysraphia with occipital encephalocele.

Authors:  R L Friede
Journal:  Dev Med Child Neurol       Date:  1978-12       Impact factor: 5.449

7.  [A new concept of Pierre Robin syndrome and disease: dysneurulation of the rhombencephalon].

Authors:  G Couly
Journal:  Rev Stomatol Chir Maxillofac       Date:  1983

8.  Combined occipitoatlantoaxial hypermobility with anterior and posterior arch defects of the atlas in Pierre-Robin syndrome.

Authors:  J G Gamble; L A Rinsky
Journal:  J Pediatr Orthop       Date:  1985 Jul-Aug       Impact factor: 2.324

9.  Kniest disease with Pierre Robin syndrome and hydrocephalus.

Authors:  M Cirillo Silengo; G F Davi; R Bianco; A DeMarco; P Franceschini
Journal:  Pediatr Radiol       Date:  1983

10.  A genetic follow-up study of 64 patients with the Pierre Robin complex.

Authors:  L J Sheffield; J A Reiss; K Strohm; M Gilding
Journal:  Am J Med Genet       Date:  1987-09
View more
  8 in total

1.  Pierre-Robin syndrome associated with Chiari I malformation.

Authors:  R Shane Tubbs; W Jerry Oakes
Journal:  Childs Nerv Syst       Date:  2003-12-05       Impact factor: 1.475

2.  Pierre-Robin syndrome associated with Chiari type I malformation.

Authors:  Mehmet Turgut
Journal:  Childs Nerv Syst       Date:  2003-12-05       Impact factor: 1.475

3.  Pierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes.

Authors:  Mohd Ilyas; Iqbal Bashir; Inayat Ellahi; Feroze Shaheen; Naseer Choh
Journal:  Childs Nerv Syst       Date:  2018-04-12       Impact factor: 1.475

4.  Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination.

Authors:  R Shane Tubbs; W Jerry Oakes
Journal:  Childs Nerv Syst       Date:  2006-10-05       Impact factor: 1.475

Review 5.  Synchronous complex Chiari malformation and cleft palate-a case-based review.

Authors:  Jacques Lara-Reyna; Johnny Carlton; Whitney E Parker; Jeffrey P Greenfield
Journal:  Childs Nerv Syst       Date:  2018-08-21       Impact factor: 1.475

6.  Chiari I Malformation in Nephropathic Cystinosis.

Authors:  Kavya I Rao; John Hesselink; Doris A Trauner
Journal:  J Pediatr       Date:  2015-08-08       Impact factor: 4.406

Review 7.  The pediatric Chiari I malformation: a review.

Authors:  R Shane Tubbs; Michael J Lyerly; Marios Loukas; Mohammadali M Shoja; W Jerry Oakes
Journal:  Childs Nerv Syst       Date:  2007-07-18       Impact factor: 1.475

Review 8.  Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion.

Authors:  Anudeep Yekula; Connor Grant; Mihir Gupta; David R Santiago-Dieppa; Pate J Duddleston; David Gonda; Michael Levy
Journal:  Childs Nerv Syst       Date:  2020-05-12       Impact factor: 1.475

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.