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Erschienen in: HSS Journal ® 2/2009

01.09.2009 | Case Report

Scoliosis in a Case of Schinzel–Giedion Syndrome

verfasst von: Amit K. Sharma, MD, DNB, Joseph A. Gonzales, MD

Erschienen in: HSS Journal ® | Ausgabe 2/2009

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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.
Literatur
1.
Zurück zum Zitat Schinzel A, Giedion A (1978) A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1(4):361–375PubMedCrossRef Schinzel A, Giedion A (1978) A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1(4):361–375PubMedCrossRef
2.
Zurück zum Zitat Albano LM, Sakae PP, Mataloun MM, Leone CR, Bertola DR, Kim CA (2004) Hydronephrosis in Schinzel–Giedion syndrome: an important clue for the diagnosis. Rev Hosp Clin Fac Med Sao Paulo 59(2):89–92PubMed Albano LM, Sakae PP, Mataloun MM, Leone CR, Bertola DR, Kim CA (2004) Hydronephrosis in Schinzel–Giedion syndrome: an important clue for the diagnosis. Rev Hosp Clin Fac Med Sao Paulo 59(2):89–92PubMed
3.
Zurück zum Zitat Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M (1994) Three new cases of the Schinzel–Giedion syndrome and review of the literature. Am J Med Genet 50(1):90–93PubMedCrossRef Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M (1994) Three new cases of the Schinzel–Giedion syndrome and review of the literature. Am J Med Genet 50(1):90–93PubMedCrossRef
4.
Zurück zum Zitat Ozkinay FF, Akisü M, Kültürsay N, Oral R, Tansug N, Sapmaz G (1996) Agenesis of the corpus callosum in Schinzel–Giedion syndrome associated with 47,XXY karyotype. Clin Genet 50(3):145–148PubMedCrossRef Ozkinay FF, Akisü M, Kültürsay N, Oral R, Tansug N, Sapmaz G (1996) Agenesis of the corpus callosum in Schinzel–Giedion syndrome associated with 47,XXY karyotype. Clin Genet 50(3):145–148PubMedCrossRef
5.
Zurück zum Zitat Beschorner R, Wehrmann M, Ernemann U, Bonin M, Horber V, Oehl-Jaschkowitz B, Meyermann R, Dufke A (2007) Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel–Giedion syndrome. Acta Neuropathol 113(3):339–346PubMedCrossRef Beschorner R, Wehrmann M, Ernemann U, Bonin M, Horber V, Oehl-Jaschkowitz B, Meyermann R, Dufke A (2007) Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel–Giedion syndrome. Acta Neuropathol 113(3):339–346PubMedCrossRef
6.
Zurück zum Zitat Joss S, Dean JC (2002) A Schinzel–Giedion-like syndrome—a milder version or a separate condition. Clin Dysmorphol 11(4):271–275PubMedCrossRef Joss S, Dean JC (2002) A Schinzel–Giedion-like syndrome—a milder version or a separate condition. Clin Dysmorphol 11(4):271–275PubMedCrossRef
7.
Zurück zum Zitat Alavi S, Kher A, Bharucha BA (1994) Schinzel–Giedion syndrome. Indian Pediatr 31(9):1111–1114PubMed Alavi S, Kher A, Bharucha BA (1994) Schinzel–Giedion syndrome. Indian Pediatr 31(9):1111–1114PubMed
8.
Zurück zum Zitat Alembik Y, Christmann D, de Saint Martin A, Eliot M, Dollfus H, Pauly F, Stoll C (1999) Schinzel–Giedion syndrome with severe deafness and neurodegenerative process. Ann Genet 42(4):225–230PubMed Alembik Y, Christmann D, de Saint Martin A, Eliot M, Dollfus H, Pauly F, Stoll C (1999) Schinzel–Giedion syndrome with severe deafness and neurodegenerative process. Ann Genet 42(4):225–230PubMed
9.
Zurück zum Zitat Culi V, Resic B, Oorthuys JW, Overweg-Plandsoen WC, Hennekam RC (1996) A Croatian case of the Schinzel–Giedion syndrome. Genet Couns 7(1):21–25 Culi V, Resic B, Oorthuys JW, Overweg-Plandsoen WC, Hennekam RC (1996) A Croatian case of the Schinzel–Giedion syndrome. Genet Couns 7(1):21–25
10.
Zurück zum Zitat Robin NH, Grace K, DeSouza TG, McDonald-McGinn D, Zackai EH (1993) New finding of Schinzel–Giedion syndrome: a case with a malignant sacrococcygeal teratoma. Am J Med Genet 47(6):852–856PubMedCrossRef Robin NH, Grace K, DeSouza TG, McDonald-McGinn D, Zackai EH (1993) New finding of Schinzel–Giedion syndrome: a case with a malignant sacrococcygeal teratoma. Am J Med Genet 47(6):852–856PubMedCrossRef
11.
Zurück zum Zitat Verloes A, Moës D, Palumbo L, Elmer C, François A, Bricteux G (1993) Schinzel–Giedion syndrome. Eur J Pediatr 152(5):421–423PubMedCrossRef Verloes A, Moës D, Palumbo L, Elmer C, François A, Bricteux G (1993) Schinzel–Giedion syndrome. Eur J Pediatr 152(5):421–423PubMedCrossRef
12.
Zurück zum Zitat Kondoh T, Kamimura N, Tsuru A, Matsumoto T, Matsuzaka T, Moriuchi H (2001) A case of Schinzel–Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy. Pediatr Int 43(2):181–184PubMedCrossRef Kondoh T, Kamimura N, Tsuru A, Matsumoto T, Matsuzaka T, Moriuchi H (2001) A case of Schinzel–Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy. Pediatr Int 43(2):181–184PubMedCrossRef
13.
Zurück zum Zitat Matsumoto F, Tohda A, Shimada K, Okamoto N (2005) Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel–Giedion syndrome. Int J Urol 12(12):1061–1062PubMedCrossRef Matsumoto F, Tohda A, Shimada K, Okamoto N (2005) Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel–Giedion syndrome. Int J Urol 12(12):1061–1062PubMedCrossRef
14.
Zurück zum Zitat Santos H, Cordeiro I, Medeira A, Mendonça E, Antunes NL, Rosa FC (1994) Schinzel–Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. Genet Couns 5(2):187–189PubMed Santos H, Cordeiro I, Medeira A, Mendonça E, Antunes NL, Rosa FC (1994) Schinzel–Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. Genet Couns 5(2):187–189PubMed
Metadaten
Titel
Scoliosis in a Case of Schinzel–Giedion Syndrome
verfasst von
Amit K. Sharma, MD, DNB
Joseph A. Gonzales, MD
Publikationsdatum
01.09.2009
Verlag
Springer-Verlag
Erschienen in
HSS Journal ® / Ausgabe 2/2009
Print ISSN: 1556-3316
Elektronische ISSN: 1556-3324
DOI
https://doi.org/10.1007/s11420-009-9111-1

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