Literature DB >> 31230109

GAPO syndrome with craniosynostosis and intracranial hypertension.

Mehdi Golpayegani1, Farhad Salari1, Zohreh Habibi2, Negin Naderian2, Farideh Nejat3,4.   

Abstract

BACKGROUND: GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) as a rare genetic disorder includes growth retardation, alopecia, pseudoanodontia, and optic atrophy. It was reported to be associated with craniosynostosis and intracranial hypertension. CASE REPORT: A patient with such a rare disorder associated with multisuture craniosynostosis and headache is presented. Surgery has been done due to intracranial hypertension.
CONCLUSIONS: Abnormal intraoperative findings including sever pericranium and dural adhesions and extraordinary bleeding related to this syndrome are described.

Entities:  

Keywords:  Craniosynostosis; Dura; GAPO syndrome; Pericranium

Year:  2019        PMID: 31230109     DOI: 10.1007/s00381-019-04250-9

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


  9 in total

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2.  GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.

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Journal:  J Radiol       Date:  2002-02

4.  Host-derived tumor endothelial marker 8 promotes the growth of melanoma.

Authors:  Mike Cullen; Steven Seaman; Amit Chaudhary; Mi Young Yang; Mary Beth Hilton; Daniel Logsdon; Diana C Haines; Lino Tessarollo; Brad St Croix
Journal:  Cancer Res       Date:  2009-07-21       Impact factor: 12.701

5.  Mutations in ANTXR1 cause GAPO syndrome.

Authors:  Viktor Stránecký; Alexander Hoischen; Hana Hartmannová; Maha S Zaki; Amit Chaudhary; Enrique Zudaire; Lenka Nosková; Veronika Barešová; Anna Přistoupilová; Kateřina Hodaňová; Jana Sovová; Helena Hůlková; Lenka Piherová; Jayne Y Hehir-Kwa; Deepthi de Silva; Manouri P Senanayake; Sameh Farrag; Jiří Zeman; Pavel Martásek; Alice Baxová; Hanan H Afifi; Brad St Croix; Han G Brunner; Samia Temtamy; Stanislav Kmoch
Journal:  Am J Hum Genet       Date:  2013-04-18       Impact factor: 11.025

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7.  Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

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Journal:  Am J Med Genet       Date:  1984-10

8.  GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.

Authors:  Nishant Goyal; Hitesh Gurjar; Bhawani Shankar Sharma; Manjari Tripathi; P Sarat Chandra
Journal:  BMJ Case Rep       Date:  2014-01-28

9.  Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome.

Authors:  Burcu Zeydan; Gulcin Benbir; Derya Uluduz; Birsen Ince; Baki Goksan; Civan Islak
Journal:  Am J Med Genet A       Date:  2014-03-24       Impact factor: 2.802

  9 in total

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