Literature DB >> 24473423

GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.

Nishant Goyal1, Hitesh Gurjar, Bhawani Shankar Sharma, Manjari Tripathi, P Sarat Chandra.   

Abstract

GAPO syndrome stands for growth retardation (G), alopecia (A), pseudoanodontia (P) and optic atrophy (O). To date, only about 35 cases of this extremely rare syndrome have been reported. Craniosynostosis/craniostenosis is a condition with an abnormal head shape due to premature fusion of the calvarial sutures and can be either non-syndromic or syndromic. Overall, craniosynostosis has an incidence of about 1 in 2500 live-births. We present a patient with GAPO syndrome in association with craniosynostosis along with intracranial hypertension, which was the cause of her headache. To the best of our knowledge, this is the first such association in the literature.

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Mesh:

Year:  2014        PMID: 24473423      PMCID: PMC3912429          DOI: 10.1136/bcr-2013-201727

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  7 in total

Review 1.  GAPO syndrome: a report of two siblings and a review of literature.

Authors:  Arti Nanda; Wafa A Al-Ateeqi; Mona A Al-Khawari; Qasem A Alsaleh; Jeoram T Anim
Journal:  Pediatr Dermatol       Date:  2010 Mar-Apr       Impact factor: 1.588

2.  GAPO syndrome associated with dilated cardiomyopathy: an unreported association.

Authors:  Gonenc Kocabay; Meral Mert
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

3.  GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism.

Authors:  Elif F Demirgüneş; Sibel Ersoy-Evans; Ayşen Karaduman
Journal:  Am J Med Genet A       Date:  2009-02-15       Impact factor: 2.802

4.  GAPO syndrome associated with craniofacial vascular malformation.

Authors:  Gregor Castrillon-Oberndorfer; Robin Seeberger; Claire Bacon; Michael Engel; Friedrich Ebinger; Oliver Christian Thiele
Journal:  Am J Med Genet A       Date:  2010-01       Impact factor: 2.802

5.  GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva.

Authors:  N A Meguid; H H Afifi; M I Ramzy; A Hindawy; S A Temtamy
Journal:  Clin Genet       Date:  1997-08       Impact factor: 4.438

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

Authors:  A Wajntal; C P Koiffmann; B B Mendonça; D Epps-Quaglia; M N Sotto; P B Rati; J M Opitz
Journal:  Am J Med Genet       Date:  1990-10

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

Authors:  R E Tipton; R J Gorlin
Journal:  Am J Med Genet       Date:  1984-10
  7 in total
  1 in total

1.  GAPO syndrome with craniosynostosis and intracranial hypertension.

Authors:  Mehdi Golpayegani; Farhad Salari; Zohreh Habibi; Negin Naderian; Farideh Nejat
Journal:  Childs Nerv Syst       Date:  2019-06-23       Impact factor: 1.475

  1 in total

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