Literature DB >> 19533249

Scoliosis in a case of Schinzel-Giedion syndrome.

Amit K Sharma1, Joseph A Gonzales.   

Abstract

Schinzel-Giedion syndrome (SGS) is a rare disorder characterized by midface retraction, hypertrichosis, and multiple skeletal anomalies with severe mental retardation. Various skeletal manifestations of the disease have been previously described. We present the first case of SGS developing scoliosis. The patient presented with scoliosis at the age of 8 years which rapidly progressed to severe thoraco-lumbar scoliosis. Survival beyond 2 years is rare in this syndrome. The objective of this report is to describe the possibility of development of scoliosis in SGS due to the neuromuscular nature of the syndrome, especially in long survivors.

Entities:  

Year:  2009        PMID: 19533249      PMCID: PMC2744749          DOI: 10.1007/s11420-009-9111-1

Source DB:  PubMed          Journal:  HSS J        ISSN: 1556-3316


  14 in total

1.  A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy.

Authors:  T Kondoh; N Kamimura; A Tsuru; T Matsumoto; T Matsuzaka; H Moriuchi
Journal:  Pediatr Int       Date:  2001-04       Impact factor: 1.524

2.  A Schinzel-Giedion-like syndrome--a milder version or a separate condition?

Authors:  Shelagh Joss; John C S Dean
Journal:  Clin Dysmorphol       Date:  2002-10       Impact factor: 0.816

3.  A Croatian case of the Schinzel-Giedion syndrome.

Authors:  V Culić; B Resic; J W Oorthuys; W C Overweg-Plandsoen; R C Hennekam
Journal:  Genet Couns       Date:  1996

4.  Schinzel-Giedion syndrome.

Authors:  S Alavi; A Kher; B A Bharucha
Journal:  Indian Pediatr       Date:  1994-09       Impact factor: 1.411

5.  Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome.

Authors:  Fumi Matsumoto; Akira Tohda; Kenji Shimada; Nobuhiko Okamoto
Journal:  Int J Urol       Date:  2005-12       Impact factor: 3.369

6.  Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype.

Authors:  F F Ozkinay; M Akisü; N Kültürsay; R Oral; N Tansug; G Sapmaz
Journal:  Clin Genet       Date:  1996-09       Impact factor: 4.438

7.  Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome.

Authors:  Rudi Beschorner; Manfred Wehrmann; Ulrike Ernemann; Michael Bonin; Veronka Horber; Barbara Oehl-Jaschkowitz; Richard Meyermann; Andreas Dufke
Journal:  Acta Neuropathol       Date:  2006-12-13       Impact factor: 17.088

8.  New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma.

Authors:  N H Robin; K Grace; T G DeSouza; D McDonald-McGinn; E H Zackai
Journal:  Am J Med Genet       Date:  1993-11-01

9.  Schinzel-Giedion syndrome.

Authors:  A Verloes; D Moës; L Palumbo; C Elmer; A François; G Bricteux
Journal:  Eur J Pediatr       Date:  1993-05       Impact factor: 3.183

10.  Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.

Authors:  Lilian Maria José Albano; Paula Priscila Ohara Sakae; Marta Maria Galli Bozzo Mataloun; Clea Rodrigues Leone; Débora R Bertola; Chong Ae Kim
Journal:  Rev Hosp Clin Fac Med Sao Paulo       Date:  2004-04-26
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  1 in total

Review 1.  Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Authors:  Wei-Liang Liu; Zhi-Xu He; Fang Li; Rong Ai; Hong-Wei Ma
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

  1 in total

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